A Novel Cyclin-Dependent Kinase 13 Variant and Unusual Association of Situs Inversus Partialis in a Child From Bahrain: A Case Report and Literature Review.

Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the CDK13 gene. This disorder was found to be related to several clinical features, including structural cardiac anomalies, developmental delay, anomalies of the corpus callosum, and a variety of facial dysmorphisms. In addition, feeding difficulties and neonatal hypotonia might also present. The diagnosis of this disorder is based on molecular genetic testing to detect the causative pathogenic variants. Here, we report a case of a one-year-old girl from Yemen, residing in Bahrain, with a CDK13-related disorder who was found to have an unusual association of abdominal situs inversus along with multiple structural cardiac anomalies, including atrial septal defect, ventricular septal defect, patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, mild coarctation of the aorta, dilated coronary sinuses, and mild regurgitation in the tricuspid valve. Moreover, facial dysmorphism including medial epicanthal folds, posteriorly rotated ears, and a depressed nasal bridge was also noted. Further assessment showed a delay in reaching developmental milestones, including speech and motor delay. The patient also presented with recurrent episodes of upper respiratory tract infections, acute bronchiolitis, and lobar pneumonia which required admission to the intensive care unit and ventilation. The last infection episode was at the age of one year. Thereafter, the patient underwent cardiac repair of the ventricular septal defect followed by no more infection episodes until the age of one year and two months. The diagnosis of CDK13 was confirmed by a whole exome sequencing test which demonstrated a novel missense variant in exon 14 of the CDK13 gene as a variant of uncertain significance in a heterozygous state.

Satisfaction and Quality of Life in Patients Who Underwent Post Massive Weight Loss Body Contouring Procedures: A Tertiary Center Experience in Bahrain.

Background: Incidence of body contouring surgeries (BCS) rose significantly to overcome problems resulted from post-Bariatric Surgery (BS). We aimed to evaluate satisfaction level and quality of life (QOL) in patients' post-BCS. Methods: In this retrospective prospective study, patients who underwent BCS in Plastic Surgery Department, Salmaniya Medical Complex, Bahrain, in 2017-2018, were enrolled. Demographic and anthropometric data were collected. BS-group's QOL and satisfaction level were assessed using a questionnaire. Results: Of 929 plastic surgery admissions, 316 (34%) were for BCS (249 patients). Fifty-eight (28%) patients underwent 82 BS were recruited, mostly females (n=42, 72.4%). The mean age was 37.4±9.6 years. Excess abdominal skin was the most area of concern (n=50, 86.2%). Median pre-BCS body mass index was 26.9 (interquartile range: 25.6-29.8) kg/m2. Most patients were overweight (n=26, 44.8%). Abdominoplasty was the commonest BCS (n=172, 50.6%). This was also the case in 82 BCS in post-BS group (n=38, 46.3%). In post-BS group, post-operative complications were noted in 25/82 (30.5%) patients with wound problems being the most frequent (n=14, 17.1%). Most patients rated their experience as better in all questionnaire domains and most (n=45, 54.9%) rated their satisfaction level as excellent. Older age gave better overall satisfaction (P<0.001) while employed patients had better overall QOL (P=0.012) and self-confidence (P=0.048). Females had better satisfaction with body appearance (P<0.001) while those underwent abdominoplasty or breast surgeries had lower physical activity (P=0.042). Conclusion: This study showed improvement in patient's QOL post-BCS with excellent overall satisfaction, findings that could be affected by age, sex, and occupation.

Pediatric and adult liver transplantation in Bahrain: The experiences in a country with no available liver transplant facilities.

BACKGROUND: Liver transplantation (LT) is a life-saving procedure for patients with end-stage liver disease and has become the standard and most effective treatment method for these patients. There are many indications for LT that vary between countries and settings. The outcome of LT depends on the available facilities and surgical expertise, as well as the types of liver graft donors available. AIM: To assess the clinical characteristics of patients from Bahrain who underwent LT overseas, and analyze factors affecting their survival. METHODS: In this retrospective cohort study, we reviewed the medical records and overseas committee registry information of all pediatric and adult patients who were sent overseas to undergo LT by the Pediatric and Medical Departments of Salmaniya Medical Complex and Bahrain Defence Force Hospital via the Overseas Treatment Office, Ministry of Health, Kingdom of Bahrain, between 1997 and 2023. Demo graphic data, LT indication, donor-recipient relationship, overseas LT center, graft type, post-LT medications, and LT complications, were collected. Outcomes measured included the overall and 5-year LT survival rate. Fisher's exact, Pearson χ2, and Mann-Whitney U tests were used to compare the pediatric and the adults' group in terms of clinical characteristics, donor-recipient relationship, medication, complications, and outcome. Survival analysis was estimated via the Kaplan-Meier's method. Univariate and multivariate analyses were used to detect predictors of survival. RESULTS: Of the 208 eligible patients, 170 (81.7%) were sent overseas to undergo LT while 38 (18.3%) remained on the waiting list. Of the 170 patients, 167 (80.3%) underwent LT and were included in the study. The majority of the patients were Bahraini (91.0%), and most were males (57.5%). One-hundred-and-twenty (71.8%) were adults and 47 (28.3%) were children. The median age at transplant was 50.0 [interquartile range (IQR): 14.9-58.4] years. The main indication for pediatric LT was biliary atresia (31.9%), while that of adult LT was hepatitis C-related cirrhosis (35.0%). Six (3.6%) patients required re-transplantation. Most patients received a living-related liver graft (82%). Pediatric patients received more living and related grafts than adults (P = 0.038 and P = 0.041, respectively), while adult patients received more cadaveric and unrelated grafts. Most patients required long-term immunosuppressive therapy after LT (94.7%), of which tacrolimus was the most prescribed (84.0%), followed by prednisolone (50.7%), which was prescribed more frequently for pediatric patients (P = 0.001). Most patients developed complications (62.4%) with infectious episodes being the most common (38.9%), followed by biliary stricture (19.5%). Tonsilitis and sepsis (n = 12, 8.1% for each) were the most frequent infections. Pediatric patients experienced higher rates of infection, rejection, and early poor graft function than adult patients (P < 0.001, P = 0.003, and P = 0.025, respectively). The median follow-up time was 6.5 (IQR: 2.6-10.6) years. The overall survival rate was 84.4%, the 5-year survival rate, 86.2%, and the mortality rate, 15.6%. Younger patients had significantly better odds of survival (P = 0.019) and patients who survived had significantly longer follow-up periods (P < 0.001). CONCLUSION: Patients with end-stage liver disease in Bahrain shared characteristics with those from other countries. Since LT facilities are not available, an overseas LT has offered them great hope.

An international multidisciplinary consensus on pediatric metabolic dysfunction-associated fatty liver disease.

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is highly prevalent in children and adolescents, particularly those with obesity. NAFLD is considered a hepatic manifestation of the metabolic syndrome due to its close associations with abdominal obesity, insulin resistance, and atherogenic dyslipidemia. Experts have proposed an alternative terminology, metabolic dysfunction-associated fatty liver disease (MAFLD), to better reflect its pathophysiology. This study aimed to develop consensus statements and recommendations for pediatric MAFLD through collaboration among international experts. METHODS: A group of 65 experts from 35 countries and six continents, including pediatricians, hepatologists, and endocrinologists, participated in a consensus development process. The process encompassed various aspects of pediatric MAFLD, including epidemiology, mechanisms, screening, and management. FINDINGS: In round 1, we received 65 surveys from 35 countries and analyzed these results, which informed us that 73.3% of respondents agreed with 20 draft statements while 23.8% agreed somewhat. The mean percentage of agreement or somewhat agreement increased to 80.85% and 15.75%, respectively, in round 2. The final statements covered a wide range of topics related to epidemiology, pathophysiology, and strategies for screening and managing pediatric MAFLD. CONCLUSIONS: The consensus statements and recommendations developed by an international expert panel serve to optimize clinical outcomes and improve the quality of life for children and adolescents with MAFLD. These findings emphasize the need for standardized approaches in diagnosing and treating pediatric MAFLD. FUNDING: This work was funded by the National Natural Science Foundation of China (82070588, 82370577), the National Key R&D Program of China (2023YFA1800801), National High Level Hospital Clinical Research Funding (2022-PUMCH-C-014), the Wuxi Taihu Talent Plan (DJTD202106), and the Medical Key Discipline Program of Wuxi Health Commission (ZDXK2021007).

Analysis and prediction of nutritional outcome of patients with pediatric inflammatory bowel disease from Bahrain.

BACKGROUND: Inflammatory bowel disease (IBD) is a chronic gastrointestinal disease that causes anorexia, malabsorption, and increased energy requirements. Childhood IBD can significantly impact nutritional status and future health. OBJECTIVE: This study aimed to analyze the nutritional status of patients with pediatric IBD at presentation and during follow-up and to identify predictors of nutritional outcome. METHODS: This retrospective cohort study reviewed the medical records of children diagnosed with IBD in the Pediatric Department, Salmaniya Medical Complex, Bahrain, 1984 - 2023. Demographic data, clinical characteristics, and anthropometric data were collected. World Health Organization growth standards were used to interpret nutritional status. RESULTS: Of the 165 patients, 99 (60%) had anthropometric data at presentation, and 130 (78.8%) had follow-up data. Most patients were males (64.6%) and had Crohn's disease (CD) (56.2%), while 43.8% had ulcerative colitis (UC). The median age at presentation was 10.9 years and the mean follow-up duration was 12.6 years. At presentation, 53.5% of the patients were malnourished, that decreased to 46.9% on follow-up. Thinness was reduced from 27.3% at presentation to 12.1% at follow-up (p = 0.003). There was an increased tendency to normal weight on follow-up (59.6%) compared to time of presentation (46.5%), p = 0.035. Overweightness showed a non-significant increase from 26.3% at presentation to 28.3% at follow-up (p = 0.791). Children with IBD were more likely to become obese when they grow up to adulthood (2.3% versus 20.5%, respectively, p < 0.001). Weight-for-age, and height-for-age at presentation were higher among CD compared to UC, but body mass index (BMI) at follow-up was higher among UC patients (p < 0.05). Thinness at follow up was associated with very early-onset disease (p = 0.02), lower weight and BMI at presentation (p < 0.001 each), younger age at follow-up (p = 0.002), pediatric age group (p = 0.023), lower hematocrit (p = 0.017), and higher C-reactive protein (p = 0.007). Overweight at follow up was associated with increased weight and BMI at presentation (p < 0.001 each), longer disease duration (p = 0.005), older age (p = 0.002), and azathioprine intake (p = 0.026). Considering follow-up duration, univariate analysis exhibited that Bahraini nationality, post-diagnosis disease duration, age at follow-up, occurrence of diarrhea, height, and BMI at presentation were factors that decreased liability to abnormal nutritional status, while CD, history of weight loss, perianal disease, and skin rash, and intake of prednisolone expressed increased liability of abnormal nutritional status (p < 0.05). CONCLUSION: Pediatric IBD is associated with a high incidence of malnutrition. Thinness is more prominent at presentation, while overweight is higher on follow-up. Multiple risk factors aggravating abnormal nutritional status were highlighted. Accordingly, nutritional counseling should be prioritized in a multidisciplinary approach.

Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.

Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. This syndrome is characterized by the following typical clinical features: hypoplasia or aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, hypothyroidism, growth retardation, psychomotor retardation, imperforate anus, genitourinary anomalies, and atypical hair patterns. Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents. During the last trimester of pregnancy, a congenital abnormality affecting the nose was detected. Immediately after birth, the clinical examination revealed dysmorphic features in the form of hypoplastic alae nasi, microcephaly, mild hypotelorism, and cutis aplasia on the scalp. The genetic testing of the patient showed a novel sequence change mutation of the UBR1 gene (1bp duplication causing a frameshift), while both parents were carriers for this mutation. Moreover, a diagnosis of pancreatic insufficiency and subclinical hypothyroidism was made based on clinical presentation and laboratory results. The patient was started on pancreatic enzyme replacement therapy and fat-soluble vitamins, minerals, and antioxidant syrup. Further assessment revealed hypotonia, growth impairment, delay in reaching developmental milestones, and bilateral profound sensorineural hearing loss, which was managed with bilateral cochlear implantation. In addition, the patient underwent multiple craniofacial reconstructive surgeries. This case report highlights the importance of early diagnosis and multidisciplinary care of patients with JBS.

Fever assessment in children under five: Are we following the guidelines?

BACKGROUND: Fever is a common cause of medical consultation and hospital admission, particularly among children. Recently, the United Kingdom's National Institute for Health and Care Excellence (NICE) updated its guidelines for assessing fever in children under five years of age. The efficient assessment and management of children with fever are crucial for improving patient outcomes. AIM: To evaluate fever assessment in hospitalized children and to assess its adherence with the NICE Fever in under 5s guideline. METHODS: We conducted a retrospective cohort review of the electronic medical records of children under five years of age at the Department of Pediatrics, Salmaniya Medical Complex, Bahrain, between June and July 2023. Demographic data, vital signs during the first 48 h of admission, route of temperature measurement, and indications for admission were gathered. Fever was defined according to the NICE guideline. The children were divided into five groups according to their age (0-3 months, > 3-6 months, > 6-12 months, > 12-36 months, and > 36-60 months). Patients with and without fever were compared in terms of demography, indication for admission, route of temperature measurement, and other vital signs. Compliance with the NICE Fever in the under 5s guideline was assessed. Full compliance was defined as > 95%, partial compliance as 70%-95%, and minimal compliance as ≤ 69%. Pearson's χ2, Student's t test, the Mann-Whitney U test, and Spearman's correlation coefficient (rs) were used for comparison. RESULTS: Of the 136 patients reviewed, 80 (58.8%) were boys. The median age at admission was 14.2 [interquartile range (IQR): 1.7-44.4] months, with the most common age group being 36-60 months. Thirty-six (26.4%) patients had fever, and 100 (73.6%) were afebrile. The commonest age group for febrile patients (> 12-36 months) was older than the commonest age group for afebrile patients (0-3 months) (P = 0.027). The median weight was 8.3 (IQR: 4.0-13.3) kg. Patients with fever had higher weight than those without fever [10.2 (IQR: 7.3-13.0) vs 7.1 (IQR: 3.8-13.3) kg, respectively] (P = 0.034). Gastrointestinal disease was the leading indication for hospital admission (n = 47, 34.6%). Patients with central nervous system diseases and fever of unknown etiology were more likely to be febrile (P = 0.030 and P = 0.011, respectively). The mean heart rate was higher in the febrile group than the afebrile group (140 ± 24 vs 126 ± 20 beats per minute, respectively) [P = 0.001 (confidence interval: 5.8-21.9)] with a positive correlation between body temperature and heart rate, r = 0.242, n = 136, P = 0.004. A higher proportion of febrile patients received paracetamol (n = 35, 81.3%) compared to the afebrile patients (n = 8, 18.6%) (P < 0.001). The axillary route was the most commonly used for temperature measurements (n = 40/42, 95.2%), followed by the rectal route (n = 2/42, 4.8%). The department demonstrated full compliance with the NICE guideline for five criteria: the type of thermometer used, route and frequency of temperature measurement, frequency of heart rate measurement, and use of antipyretics as needed. Partial compliance was noted for two criteria, the threshold of fever at 38 °C or more, and the respiratory rate assessment in febrile patients. Minimal compliance or no record was observed for the remaining three criteria; routine assessment of capillary refill, temperature reassessment 1-2 h after each antipyretic intake, and refraining from the use of tepid sponging. CONCLUSION: This study showed that fever assessment in hospitalized children under five years of age was appropriate, but certain areas of adherence to the NICE guideline still need to be improved.

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.

Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000. The wide spectrum of symptoms and associated diseases makes the diagnosis of this disease particularly challenging. Here, we report a 12-year-old Bahraini male who presented with the core clinical features of IMNEPD including intellectual disability, global developmental delay, sensorineural hearing loss, endocrine dysfunction, and exocrine pancreatic insufficiency. The diagnosis was confirmed by genetic testing using whole exome sequencing. This is the first reported case of IMNEPD from Bahrain and was found to have a novel homozygous peptidyl-tRNA hydrolase 2 (PTRH2) gene mutation (NM_001015509.2: c.370del p.(Glu124Lysfs*4)). Moreover, we conducted an extensive literature review with an emphasis on the variable clinical spectrum and genotypes of previously reported patients in comparison to our case.

Presence of SARS-CoV-2 virus in wastewater in the Kingdom of Bahrain during the COVID-19 pandemic.

Background: Several countries, including Bahrain, used wastewater surveillance for disease activity monitoring. This study aimed to determine the presence of SARS-CoV-2 in untreated wastewater and to correlate it with the disease spread. Methods: A retrospective review was conducted for all wastewater samples tested for SARS-CoV-2 in public health laboratories from November 2020 to October 2022. Samples were collected weekly between February and October 2022 from different areas across Bahrain. Real-time polymerase chain reaction was used to test for the presence of SARS-CoV-2 in wastewater, and the results were correlated with the number of COVID-19 cases in the same area. Results: Of 387 wastewater samples, 103 (26.6%) samples tested positive for SARS-CoV-2. In late 2020, of 42 samples collected initially, four (9.5%) samples tested positive for SARS-CoV-2 in the four locations that hosted COVID-19 isolation facilities. Between February and October 2022, 345 specimens of wastewater were tested, and 99 (28.7%) were positive. The highest detection rate was in February, June, and July (60%, 45%, and 43%, respectively), which corresponded to COVID-19 peaks during 2022, and the lowest detection rate was in August and September (11% and 0%, respectively), corresponding to the low number of COVID-19 cases. Conclusion: The detection rate of SARS-CoV-2 in wastewater samples from Bahrain was high and was significantly correlated with the number of reported COVID-19 cases. Wastewater surveillance can aid the existing surveillance system in monitoring SARS-CoV-2 spread.

Multisystemic Manifestations of Hyaline Fibromatosis Syndrome: Implications for Diagnosis and Management.

Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder characterized by the deposition of hyaline material in the skin, soft tissues, and bones. In this report, we discuss a case of a six-month-old male with HFS who presented with faltering growth, chronic diarrhea, multiple joint contractures, joint stiffness, hyperpigmented skin over bony prominences, gingival hypertrophy, patent foramen ovale, and symmetric periventricular hyperintensities on brain MRI. The diagnosis of HFS was confirmed by skin biopsy and genetic testing, which identified a homozygous mutation in the anthrax toxin receptor 2 (ANTXR2) gene. The patient was managed symptomatically with nutritional support, physiotherapy, analgesics, and regular dental care. He also received intralesional corticosteroid therapy, which significantly decreased the size of the skin nodules. His hyperpigmented skin and gingival hypertrophy remained stable, and the patent foramen ovale was managed conservatively. This case report highlights the importance of early diagnosis and management of HFS and the benefits of involving a multidisciplinary team to improve the quality of life of affected individuals.

Accidental ingestion of foreign bodies/harmful materials in children from Bahrain: A retrospective cohort study.

BACKGROUND: Children like to discover their environment by putting substances in their mouths. This behavior puts them at risk of accidentally ingesting foreign bodies (FBs) or harmful materials, which can cause serious morbidities. AIM: To study the clinical characteristics, diagnosis, complications, management, and outcomes of accidental ingestion of FBs, caustics, and medications in children. METHODS: We conducted a retrospective cohort study of all children admitted for accidental ingestion to the Department of Pediatrics, Salmaniya Medical Complex, Bahrain, between 2011 and 2021. Demographic data, type of FB/harmful material ingested, and investigations used for diagnosis and management were recorded. The patients were divided into three groups based on the type of ingested material (FBs, caustics, and medications). The three groups were compared based on patient demographics, socioeconomic status (SES), symptoms, ingestion scenario, endoscopic and surgical complications, management, and outcomes. The FB anatomical location was categorized as the esophagus, stomach, and bowel and compared with respect to symptoms. The Fisher's exact, Pearson's χ2, Mann-Whitney U, and Kruskal-Wallis tests were used for comparison. RESULTS: A total of 161 accidental ingestion episodes were documented in 153 children. Most children were boys (n = 85, 55.6%), with a median age of 2.8 (interquartile range: 1.8-4.4) years. Most participants ingested FBs (n = 108, 70.6%), 31 (20.3%) ingested caustics, and the remaining 14 (9.2%) ingested medications. Patients with caustic ingestion were younger at the time of presentation (P < 0.001) and were more symptomatic (n = 26/31, 89.7%) than those who ingested medications (n = 8/14, 57.1%) or FBs (n = 52/108, 48.6%) (P < 0.001). The caustic group had more vomiting (P < 0.001) and coughing (P = 0.029) than the other groups. Most FB ingestions were asymptomatic (n = 55/108, 51.4%). In terms of FB location, most esophageal FBs were symptomatic (n = 14/16, 87.5%), whereas most gastric (n = 34/56, 60.7%) and intestinal FBs (n = 19/32, 59.4%) were asymptomatic (P = 0.002). Battery ingestion was the most common (n = 49, 32%). Unsafe toys were the main source of batteries (n = 22/43, 51.2%). Most episodes occurred while playing (n = 49/131, 37.4%) or when they were unwitnessed (n = 78, 57.4%). FBs were ingested more while playing (P < 0.001), caustic ingestion was mainly due to unsafe storage (P < 0.001), and medication ingestion was mostly due to a missing object (P < 0.001). Girls ingested more jewelry items than boys (P = 0.006). The stomach was the common location of FB lodgment, both radiologically (n = 54/123, 43.9%) and endoscopically (n = 31/91, 34%). Of 107/108 (99.1%) patients with FB ingestion, spontaneous passage was noted in 54 (35.5%), endoscopic removal in 46 (30.3%), laparotomy in 5 (3.3%) after magnet ingestion, and direct laryngoscopy in 2 (1.3%). Pharmacological therapy was required for 105 (70.9%) patients; 79/105 (75.2%) in the FB group, 22/29 (75.9%) in the caustic group, and 4/14 (28.8%) in the medication group (P = 0.001). Omeprazole was the commonly used (n = 58; 37.9%) and was used more in the caustic group (n = 19/28, 67.9%) than in the other groups (P = 0.001). Endoscopic and surgical complications were detected in 39/148 (26.4%) patients. The caustic group had more complications than the other groups (P = 0.036). Gastrointestinal perforation developed in the FB group only (n = 5, 3.4%) and was more with magnet ingestion (n = 4) than with other FBs (P < 0.001). In patients with FB ingestion, patients aged < 1 year (P = 0.042), those with middle or low SES (P = 0.028), and those with more symptoms at presentation (P = 0.027) had more complications. Patients with complications had longer hospital stays (P < 0.001) than those without. CONCLUSION: Accidental ingestion in children is a serious condition. Symptomatic infants from middle or low SES families have the highest morbidity. Prevention through parental education and government legislation is crucial.

Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.

Background: Alagille syndrome (ALGS) is an autosomal dominant disease caused by JAG1 or NOTCH2 mutation. It is diagnosed by the presence of three out of five features: characteristic facies, posterior embryotoxon, peripheral pulmonary stenosis, vertebral defects, and interlobular bile duct paucity. This study aimed to review the prevalence, clinical presentations, diagnosis, treatment, and outcome of patients with ALGS. Materials and Methods: This is a retrospective review of patients with ALGS at the Pediatric Department, Salmaniya Medical Complex, Bahrain, between August 1994 and October 2022. The diagnosis was based on clinical, laboratory, radiological, histopathological, and genetic findings. Results: Five patients were found to have ALGS. The prevalence of ALGS in Bahrain was 1.04 patients per 100,000 (0.001%). Four were Bahraini and three were females. Median birth weight was 2.3 (2.3-2.5) kg. All patients presented at the time of birth with low birth weight, cholestatic jaundice, clay-colored stool, heart murmur, and dysmorphic facial features. All had congenital heart diseases, two had butterfly vertebrae, and one had posterior embryotoxon. All had elevated liver enzymes and normal abdominal ultrasound. Three had positive hepatobiliary iminodiacetic acid scan and one had bile duct paucity in liver biopsy. Three had intraoperative cholangiogram. Four were positive for JAG1 mutation. All received ursodeoxycholic acid and fat-soluble vitamins. Two required liver transplantation. Conclusion: ALGS is a rare disorder in Bahrain. Diagnosis is challenging as the disease can be associated with or misdiagnosed as biliary atresia. Patients with ALGS are at high risk of morbidity either by unnecessary intraoperative cholangiogram or unavoidable liver transplantation.

Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.

Bile acid synthesis disorders (BASD) are a group of rare autosomal recessive disorders. Of the nine different versions, BASD type 4 is characterized by a gene mutation in alpha-methylacyl-CoA racemase (AMACR), which is located on chromosome 5p13. These disorders generally present with a normal gamma-glutamyl transferase with cholestasis, absence of pruritis, and malabsorption of fat, which can lead to fat-soluble vitamin deficiencies. In adulthood, patients usually develop neurological sequelae. Initial testing can be done through the measurement of urine metabolites; however, confirmation of the diagnosis is achieved through whole exome sequencing. Treatment involves supplementation of oral cholic acid and modification of diet. Only 23 patients with this disease have been described. Here, we report two cases of siblings from a family in Bahrain with a novel AMACR mutation and a unique association with autoimmune antibodies alongside a literature review.

Assessing indicators and clinical differences between functional and organic childhood constipation: a retrospective study in pediatric gastroenterology clinics.

BACKGROUND: Chronic constipation is common among children worldwide. Constipation includes functional constipation (FC) and organic constipation (OC). The early recognition of the causes of childhood constipation and its subsequent complications is important. PURPOSE: This study aimed to evaluate the prevalence and causes of childhood constipation and compare the clinical characteristics, treatment, and outcomes of children with FC versus OC to identify the predictive factors. METHODS: This retrospective cross-sectional study analyzed children with FC or OC diagnosed in pediatric gastroenterology clinics, Salmaniya Medical Complex, Bahrain, 2017-2021. The Rome IV criteria were used to define FC. RESULTS: A total of 7,287 gastroenterology appointments were attended by 4,346 children during the study period. Of the 639 children (14.7%) with constipation, 616 (96.4%) were included in the study. Most patients had FC (n=511, 83%), whereas 17% (n=105) had OC. FC was more common in females than in males. Children with OC were younger (P<0.001) and had lower body weights (P<0.001), more stunted growth (P<0.001), and more associated diseases (P= 0.037) than those with FC. Enuresis was the most associated disease (n=21, 3.4%). Organic causes included neurological, allergic, endocrine, gastrointestinal, and genetic diseases. Allergies to cow milk protein were the most common (n=35, 5.7%). The presence of mucus in the stool was more common in OC than in FC (P=0.041), but no other symptoms or physical findings differed. A total of 587 patients (95.3%) received medication, among which lactulose was commonly prescribed (n=395, 64.1%). There were no intergroup differences in nationality, sex, body mass index, seasonal variation, laxative type, or treatment response. A good response was observed in 114 patients (90.5%). CONCLUSION: Chronic constipation represented a significant proportion of outpatient gastroenterology visits. FC was the most common type. Young children with a low body weight, stunted growth, mucus in the stool, or associated diseases should be assessed for an underlying organic cause.

Clinical Characteristics and Outcome of Infants with Biliary Atresia in Bahrain.

Objectives: Though the prevalence of biliary atresia (BA) in the Middle East is low, its role in causing life-threatening liver diseases is disproportionately high. This study aimed to assess the prevalence, clinical presentations, diagnosis, surgical interventions, and long-term outcomes including survival rate, and to analyze prognostic factors affecting the survival of infants with BA in Bahrain. Methods: A retrospective cohort review of cases of infants diagnosed with BA between January 1993 and December 2021 at Salmaniya Medical Complex, Bahrain, was conducted. Demographic, clinical, laboratory, imaging, and histopathological data were analyzed. Outcomes measured included 5-year native liver survival (NLS) and overall liver survival (OLS) rates. Results: Out of 27 infants diagnosed with BA, 26 were included in the study. The overall prevalence was 0.007% and was significantly higher among Bahraini (0.006%) compared to the non-Bahraini population (0.001%), p< 0.001. Most patients had clay-colored stool (19 of 22; 86.4%) and hepatomegaly (18; 81.8%). Kasai procedure was performed in 23 (88.5%) patients and primary liver transplant (LT) in three. Ten (38.5%) infants required LT after the Kasai procedure. The median age at diagnosis was 56 days with interquartile range (IQR) of 30-90, and the median age at the Kasai procedure was 61 days (IQR = 56-90). NLS and OLS rates were 53.8% and 65.4%, respectively. The overall mortality rate was 34.6%. Six of the 13 (46.2%) patients who were subjected to Kasai procedure alone died awaiting LT donors. Infants with lower birth weight and older age at diagnosis had significantly better odds of survival (p< 0.029 and p< 0.044, respectively). Conclusions: BA is uncommon among infants in Bahrain. Despite effective treatment options, late diagnosis can lead to significant morbidity and mortality. Our study found a relatively low prevalence of NLS (53.8%) and OLS (65.4%). Since the majority of the diagnosed patients had presented with clay-colored stools, implementing an infant stool card for screening may be beneficial in raising parental awareness and detecting BA early. Early detection and treatment using novel therapies are likely to improve the survival rates.

Factors associated with poor outcomes in patients with severe acute respiratory infections in Bahrain.

Background: Severe acute respiratory tract infection (SARI) is a major global health threat. This study aimed to examine risk factors associated with poor outcomes in patients with SARI. Methods: All patients who met World Health Organization's (WHO) SARI case definition and were admitted to Salmaniya Medical Complex from January 2018 to December 2021 were included. Epidemiological and virological data were obtained and analyzed. Results: Of 1159 patients with SARI included, 731 (63.1%) patients were below 50 years, and 357 (30.8%) tested positive for viral pathogens. The most prevalent virus was Flu-A (n = 134, 37.5%), SARS-CoV2 (n = 118, 33%), RSV (n = 51, 14.3%), Flu B (n = 49,13.7%), other viruses (n = 3, 0.8%), and combined infection (n = 2, 0.6%). Six hundred fifty-eight (56.8%) patients had comorbidities, mainly diabetes (n = 284, 43%) and heart disease (n = 217, 33%). 183 (16%) patients were admitted to ICU, 110 (9%) needed mechanical ventilation, and 80 (7%) patients died.The odds of ICU admission were higher for patients with hematological (OR 5.9, 95% CI 3.1-11.1) and lung diseases (OR 2.7, 95% CI 1.6-4.6). The odds of mechanical ventilation were higher among patients with lung disease (OR 3.1, 95% 1.7-5.5). The mortality odds were higher among patients above 50 (OR 2.4, 95% CI 1.4-4.1) and chronic kidney disease (OR 2.5, 95% CI 1.1-5.2). Conclusions: Being 50 years or above or having kidney, lung, or heart diseases was associated with worse SARI outcomes. Efforts and actions in developing better strategies to vaccinate individuals at high risk and early diagnosis and treatment should help in reducing the burden of SARI.

The Prevalence of Iron and Vitamin D Deficiencies in Pediatric Patients With Inflammatory Bowel Disease in Bahrain.

Introduction Inflammatory bowel diseases (IBD) are chronic diseases that can affect nutrient absorption leading to micronutrient deficiencies and biochemical abnormalities.This study aimed to assess certain serum micronutrients and nutritionally related biochemical markers levels in patients with pediatric IBD and to compare the actual levels and the prevalence of micronutrients deficiencies and biochemical abnormalities between patients with Crohn's disease (CD) and those with ulcerative colitis (UC). Methods A retrospective cross-sectional study reviewing medical records of patients with IBD was conducted in the pediatric department, Salmaniya medical complex, Bahrain, from 1 January 1984 to 31 December 2021. Demographic data and laboratory results related to micronutrients and biochemical markers including full blood count, total protein, albumin, globulin, iron, ferritin, folic acid, vitamin B12, calcium, phosphorous, magnesium, and vitamin D levels were collected upon presentation before starting the treatment. Nutritional deficiencies were compared based on sex, nationality, type of IBD, age at presentation, disease duration, weight at diagnosis, and inflammatory markers levels including erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Results Of 157 patients with pediatric IBD, 117 (74.5%) were included. Sixty-six (56.4%) patients were males. Sixty-six (56.4%) had CD and 51 (43.6%) had UC. No patient had indeterminant colitis. The mean age at presentation was 10.8±3.8 years. Most patients had one or more micronutrient deficiencies (n=110, 94%). Anemia was a common finding (n=79/116, 68.1%), with iron deficiency anemia (IDA) being predominant. Low iron levels were noted in 64/77 (83.1%) patients with a median of 5.0 (2.0-9.3) µmol/L (normal range, 11.6-31.3); isolated iron deficiency (ID) in 11/18 (61.1%) and IDA in 53/59 (89.8%) patients. Vitamin D deficiency was the second most common (n=45/61, 73.8%). Serum albumin, ferritin, calcium, phosphorous, and magnesium were deficient in 29.2%, 27.8%, 31.7%, 12.5%, and 10%, respectively. One patient had vitamin B12 deficiency while none had folate deficiency. Patients with CD had significantly lower serum iron (5.4±5.6 versus 8.1±6.09 µmol//L, p=0.02) and lower serum protein (71.7±8.7 versus 75.4±9.9 g/L, p=0.043) but higher serum ferritin (45 (19-110.2) versus 21.3 (10.3-51.2) µg/L, p=0.046) compared to those with UC. Elevated ESR was noted in 62/105 (59.1%) patients while high CRP was found in 67/104 (64.4%). Patients with low iron had higher ESR (28 (17-47) versus 14 (10-33) mm/h, p=0.028) and higher CRP (13.3 (1.6-42) versus 1.8 (0.9-4.6) mg/L, p=0.019) levels compared to those with normal levels. Conclusion Patients with pediatric IBD are at risk of multiple micronutrient deficiencies and biochemical abnormalities. Iron and vitamin D deficiencies are the most frequent. Patients with CD are more prone to have lower serum iron and protein levels than those with UC. ID was associated with elevated inflammatory markers.

Causes of gastrointestinal bleeding in children based on endoscopic evaluation at a tertiary care center in Bahrain.

BACKGROUND: Gastrointestinal bleeding (GIB) is a serious health problem worldwide, particularly during childhood. This can be an alarming sign of an underlying disease. Gastrointestinal endoscopy (GIE) is a safe method for the diagnosis and treatment of GIB in most cases. AIM: To determine the incidence, clinical presentation, and outcomes of GIB in children in Bahrain over the last two decades. METHODS: This was a retrospective cohort review of the medical records of children with GIB who underwent endoscopic procedures in the Pediatric Department at Salmaniya Medical Complex, Bahrain, between 1995 and 2022. Demographic data, clinical presentation, endoscopic findings, and clinical outcomes were recorded. GIB was classified into upper (UGIB) and lower (LGIB) GIB according to the site of bleeding. These were compared with respect to patients' sex, age, and nationality using the Fisher's exact, Pearson's χ 2, or the Mann-Whitney U tests. RESULTS: A total of 250 patients were included in this study. The median incidence was 2.6/100000 per year (interquartile range, 1.4-3.7) with a significantly increasing trend over the last two decades (P < 0.0001). Most patients were males (n = 144, 57.6%). The median age at diagnosis was 9 years (5-11). Ninety-eight (39.2%) patients required upper GIE alone, 41 (16.4%) required colonoscopy alone, and 111 (44.4%) required both. LGIB was more frequent (n = 151, 60.4%) than UGIB (n = 119, 47.6%). There were no significant differences in sex (P = 0.710), age (P = 0.185), or nationality (P = 0.525) between the two groups. Abnormal endoscopic findings were detected in 226 (90.4%) patients. The common cause of LGIB was inflammatory bowel disease (IBD) (n = 77, 30.8%). The common cause of UGIB was gastritis (n = 70, 28%). IBD and undetermined cause for bleeding were higher in the 10-18 years group (P = 0.026 and P = 0.017, respectively). Intestinal nodular lymphoid hyperplasia, foreign body ingestion, and esophageal varices were more common in the 0-4 years group (P = 0.034, P < 0.0001, and P = 0.029, respectively). Ten (4%) patients underwent one or more therapeutic interventions. The median follow-up period was two years (0.5-3). No mortality was reported in this study. CONCLUSION: GIB in children is an alarming condition, whose significance is increasing. LGIB, commonly due to IBD, was more common than UGIB, commonly due to gastritis.

Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21.

Acute liver failure (ALF) in children is a rare life-threatening condition. ALF is caused by different etiologies. The most common causes are drug-induced liver injury, infections, and metabolic diseases. Other rare causes of ALF are genetic disorders including spinocerebellar ataxia-21 (SCAR21). Herein, we describe the first Bahraini child who was diagnosed with a novel homozygous mutation in the SCYL1 gene. He was admitted to the hospital twice by the age of two and five years due to acute hepatic failure triggered by a febrile illness. Drug-induced, infectious causes, and metabolic diseases were excluded. The liver function then gradually recovered. The patient had delayed gross motor development as he started to walk at 20 months of age. After the first episode of ALF, he had progressive difficulty in walking leading to frequent falls and ending with a complete inability to walk. A whole-exome sequencing (WES) test revealed that the patient has previously unreported autosomal recessive pathogenic non-sense variation c.895A>T (p.Lys299Ter) in exon 7 of the SCYL1 gene in a homozygous status. It is confirmed that the pathogenicity of this variant in the SCYL1 gene was associated with SCAR21 disease.

Bone Mineral Density in Patients with Pediatric Inflammatory Bowel Disease Using Dual Energy X-Ray Absorptiometry.

BACKGROUND: Inflammatory bowel disease (IBD) is a chronic inflammatory immune-mediated condition that affects the gastrointestinal system and alters bone growth and bone mineral density (BMD). Here we aimed to study the prevalence and predictors of a low BMD in pediatric patients with IBD. METHODS: This retrospective cross-sectional analytical study included pediatric patients with IBD in whom BMD was evaluated using dual energy X-ray absorptiometry of the total body and lumbar spine. Osteoporosis was defined as a BMD Z-score ≤-2, osteopenia as -2 to -1, and normal as >-1. Clinical and laboratory findings were compared between patients with and without osteoporosis. RESULTS: Of the 48 patients, 30 (62.5%) were males, 35 (72.9%) had Crohn's disease, and 13 (27.1%) had ulcerative colitis. The mean age at diagnosis was 9.9±2.8 years. The median age at the time of the BMD scans was 11.9 (interquartile range, 9.9-14.3) years. Total body BMD scans identified 13 (27.1%) and 16 (33.3%) patients with osteoporosis and osteopenia, respectively. Spinal BMD scans revealed that 17 (39.5%) and 14 (32.6%) patients had osteoporosis and osteopenia, respectively. A low body mass index (BMI) Z-score (p=0.038), ileocolonic disease location (p=0.008), and a low calcium level (p=0.008) were significant predictors of osteoporosis on the total body BMD scans. A low BMI Z-score (p=0.039), decreased hemoglobin level (p=0.018), low calcium level (p=0.033), and infliximab use (p=0.019) were significant predictors of osteoporosis on the spinal BMD scans. CONCLUSIONS: This study showed a high prevalence of low BMD among pediatric patients with IBD. A low BMI, ileocolonic disease location, low hemoglobin and calcium levels, and infliximab use were significantly associated with osteoporosis.