COVID-19 vaccine and non-syndromic orofacial clefts in five arab countries. A case-control study.

OBJECTIVES: Risk factors for non-syndromic orofacial cleft (NSOFCs) include genetic profile and environmental exposure to medication and illnesses during pregnancy. We assessed the association between the COVID-19 vaccination and the incidence of NSOFC across five Middle Eastern countries. MATERIALS AND METHODS: This multi-country, hospital-based, case-control study included infants with NSOFCs whose first 3 intrauterine months coincided with the time when pregnant women were allowed to receive COVID-19 vaccination in the countries participating in the study. Newborns with NSOFCs were examined for cleft type and their parents were interviewed for maternal exposures and COVID-19 vaccination. Controls were newborns matched to cases in gender and setting. RESULTS: The study recruited 977 (348 children with NSOFCs and 629 controls). Maternal use of nicotine (Adjusted Odds Ratio (AOR): 2.437; P = 0.044) and family history of NSOFC (AOR: 11.059; P < 0.001) increased significantly the AOR of having a child with NSOFC. On the other hand, COVID-19 vaccine administration to pregnant mothers have significantly decreased the AOR of having a child with NSOFC (AOR: 0.337; P = 0.006). CONCLUSION: This study suggests that COVID-19 vaccination is not related to NSOFC and might protect against having a child affected with such a congenital anomaly. CLINICAL RELEVANCE: The finding of this study is important for healthcare providers for considering COVID-19 vaccination for pregnant woman. Clear communication and education about the potential risks and benefits would be crucial for informed decision-making. The study's results would directly impact pregnant individuals, as they would need accurate information to make informed decisions about their health and the health of their infants.

COVID-19 related risk factors and their association with non-syndromic orofacial clefts in five Arab countries: a case-control study.

BACKGROUND: The environmental etiology of non-syndromic orofacial clefts (NSOFCs) is still under research. The aim of this case-control study is to assess COVID-19 associated factors that may be related to the risk of NSOFC in five Arab countries. These factors include COVID-19 infection, COVID-19 symptoms, family member or friends infected with COVID-19, stress, smoking, socioeconomic status and fear of COVID-19. METHODS: The study took place in governmental hospitals in five Arab countries from November 2020 to November 2021. Controls are matched in the month of delivery and site of recruitment. A clinical examination was carried out using LASHAL classification. Maternal exposure to medication, illnesses, supplementation, COVID-19 infection during their pregestation and 1st trimester periods were evaluated using a validated questionnaire. Maternal exposure to stress was assessed using the Life Events scale, fear of covid-19 scale, family member or friend affected with covid-19 infection, pregnancy planning and threatened abortion. RESULTS: The study recruited 1135 infants (386 NSOFC and 749 controls). Living in urban areas, maternal exposure to medications 3-months pregestation, maternal exposure to any of the prenatal life events and maternal fear of COVID-19 significantly increased the risk of having a child with NSOFC. On the other hand, mothers exposed to supplementation 3-months pregestation, mothers suspected of having COVID-19 infection, family members or friends testing positive with COVID-19 significantly decreased the risk of having a child with NSOFC. CONCLUSIONS: This study suggests that NSOFC may be associated with maternal exposure to lifetime stress and COVID-19 fear in particular, with no direct effect of the COVID-19 infection itself. This highlights the importance of providing psychological support for expecting mothers during stressful events that affect populations such as the COVID-19 pandemic, in addition to the usual antenatal care.

Coronavirus Infection in Neonates: Neurodevelopmental Outcomes at 18 Months of Age.

Background: Although most neonates with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection experience only mild disease, its impact on neurodevelopmental outcomes is unknown. This study aimed to assess the 18-month neurodevelopmental outcomes of infants who had SARS-CoV-2 infection as neonates. Methods: The authors conducted a prospective cohort study of neonates diagnosed with SARS-CoV-2 infection from June 2020 to December 2020 through nasopharyngeal coronavirus disease 2019 (COVID-19). A total of 58 neonates were identified from the Kuwait National COVID-19 Registry and enrolled. Historical controls were selected from the neonatal follow-up registry and matched in a 2 : 1 ratio based on sex and gestational age. When the subjects were 18 months of age, their neurodevelopmental outcomes were assessed by two trained assessors using the Bayley Scales of Infant and Toddler Development-3rd Edition (BSID-III). Results: Forty children diagnosed with SARS-CoV-2 infection were included in the final analysis. The median age at infection was 18 days (range: 10-26 days). Eighteen (45%) patients were asymptomatic, 15 (37.5%) had a sepsis-like presentation, 5 (12.5%) exhibited respiratory distress, and 2 (5%) had a multisystem inflammatory syndrome in children (MIS-C)-like presentation. At the 18 months follow-up, only one child showed a severe developmental delay and one child had a language delay. BSID-III outcomes did not differ significantly between the SARS-CoV-2-infected and control groups. Conclusions: There was no difference in neurodevelopmental outcomes at 18 months in children infected with SARS-CoV-2 compared with controls, although longer neurodevelopmental follow-up studies are required.

Neurodevelopmental outcomes of infants born to mothers with SARS-CoV-2 infections during pregnancy: a national prospective study in Kuwait.

BACKGROUND: An increasing proportion of women are infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during pregnancy. Intrauterine viral infections induce an increase in the levels of proinflammatory cytokines, which inhibit the proliferation of neuronal precursor cells and stimulate oligodendrocyte cell death, leading to abnormal neurodevelopment. Whether a maternal cytokine storm can affect neonatal brain development is unclear. The objective of the present study was to assess neurodevelopmental outcomes in neonates born to mothers with SARS-CoV-2 infections during pregnancy. METHODS: In this prospective cohort study, the neurodevelopmental status of infants (N = 298) born to women with SARS-CoV-2 infections during pregnancy was assessed at 10-12 months post-discharge using the Ages and Stages Questionnaire, 3rd edition (ASQ-3). The ASQ-3 scores were classified into developmental delays (cutoff scores ≤ 2 standard deviations (SDs) below the population mean) and no delays (scores > 2 SDs above the population mean). RESULTS: The majority (90%) of the infants born to mothers with SARS-CoV-2 infections during pregnancy had favorable outcomes and only 10% showed developmental delays. Two of the 298 infants tested positive for SARS-CoV-2, and both had normal ASQ-3 scores. The majority of the pregnant women had SARS-CoV-2 infections during their third trimester. The risk of developmental delays among infants was higher in those whose mothers had SARS-CoV-2 infections during the first (P = 0.039) and second trimesters (P = 0.001) than in those whose mothers had SARS-CoV-2 infections during the third trimester. CONCLUSION: The neurodevelopmental outcomes of infants born to mothers with SARS-CoV-2 infections seem favorable. However, more studies with larger sample sizes and longer follow-up periods are required.

The Pediatric COVID-19 Registry in Kuwait: Methodology and Results of Pilot Phase.

OBJECTIVE: Establishing a pediatric COVID-19 registry in Kuwait (PCR-Q8) was deemed imperative during the pandemic to study children infected with severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) focusing on mode of presentation, therapeutic interventions, disease severity, and early outcomes. This manuscript describes the rapid establishment of the PCR-Q8 registry showcasing an infrastructure of the development process and presents the results of the pilot phase. SUBJECT AND METHODS: The registry was developed and implemented using the general key steps from a resource titled "Registries for Evaluating Patient Outcomes: A User's Guide" as a guide for best practice, experience from a previously established pediatric diabetes registry in Kuwait and several other COVID-19 registries developed globally. During the pilot phase, a convenience sample of 120 children was included, of whom 66 (55%) were male. RESULTS: Experience and expertise from other COVID-19 registries; guidance provided by the World Health Organization; and effective collaboration and cooperation between the stakeholders, study group, and data enterers during these challenging times were critical for the development and implementation of the registry. Our results were similar to international reports which showed that most children presented with mild disease (69.2%), majority (70.2%) had normal chest X-ray, and the most common symptom at presentation was fever (77%). CONCLUSION: We anticipate the development of PCR-Q8 to be a stepping-stone for more in-depth investigation of SARS-CoV-2 infection in children in Kuwait and for the establishment of other registries.

Clinical characteristics of pediatric SARS-CoV-2 infection and coronavirus disease 2019 (COVID-19) in Kuwait.

Clinical presentation of coronavirus disease-2019 (COVID-19) ranges from asymptomatic to severe and life-threatening. National-level registries found that children, generally, have less severe disease when compared with adults. However, most asymptomatically infected children will not present to hospital and may be missed. We aimed to describe the clinical characteristics in pediatric COVID-19 patients in Kuwait, and to estimate the potential duration of viral shedding. A retrospective cohort study was performed in Jaber Alahmad Hospital (JAH) from February 29 to April 30, 2020. During the study period and as part of the public health measures, all severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected patients from 1 month to 18 years old, regardless of symptoms, were hospitalized at JAH, and were included. Polymerase chain reaction (PCR) negativity was defined as having two consecutive negative PCR results from a respiratory specimen. Descriptive statistics and multivariable regression analyses were performed. We found that 67.9% (95% CI, 59.4%-75.3%) of 134 SARS-CoV-2-infected children were asymptomatic. Median PCR positivity was 15 days and did not vary with symptoms. Among patients who had laboratory investigations and chest imaging, symptomatic infection was associated with elevated C-reactive protein and procalcitonin, and radiographic pneumonia. Asymptomatic SARS-CoV-2 infection is very common in children. Among symptomatic patients, the disease seems to be mild. Children exhibit substantial duration of viral shedding, regardless of symptoms.

Training in neonatal neurocritical care: a proposal for a hybrid model of competence by design and time-based methods.

BACKGROUND: Neonatal neurocritical care (NNCC) is a rapidly advancing field with limited fellowship training available in locally developed, non-accredited programs. A standardized survey aimed to understand the training backgrounds of individuals practicing NNCC, the structure of existing clinical NNCC services/training programs, and suggested clinical competencies for new graduates. METHODS: We developed an anonymous survey electronically sent to members of societies related to NNCC. Using the survey results as a guide, we discuss a competence by design (CBD) curriculum as a complementary approach to traditional time-based training. RESULTS: There were 82 responses to the survey from 30 countries; 95% of respondents were physicians. Thirty-one (42%) institutions reported having an NNCC service, 24 (29%) individuals reported formal NNCC training, 81% reported "significant variability" across NNCC training programs, and 88% were both in favor of standardizing training programs and pursuing formal accreditation for NNCC in the next 5 years. CONCLUSIONS: The survey results demonstrate international interest in standardizing NNCC training and development of an accreditation or certification process. We propose consideration of a CBD-type curriculum as a training approach to focus on the development of specific NNCC competencies, rather than assuming the acquisition of these competencies based on time as a surrogate. IMPACT: Continued growth and development in the field of NNCC has led to increasing need for training programs suited to meet the diverse needs of trainees from varied backgrounds. We present the results of an international survey that assessed the structure of existing training programs and the priority areas in which graduates must demonstrate competence, highlighting the combination of CBD and time-based training as one approach to address these recommendations. The survey results support interest in translating published training competencies, existing expertise, and infrastructure across centers into a standardized curriculum for NNCC including certification opportunities.

Assessment of Clinical Characteristics and Mortality-Associated Factors in COVID-19 Critical Cases in Kuwait.

OBJECTIVE: The objective of this study was to assess the clinical characteristics and identify mortality risk factors in intensive care unit (ICU)-admitted COVID-19 patients. METHODS: We recruited and analyzed SARS-CoV-2-infected adult patients (age ≥18 years) who were admitted to the ICU at Jaber Al-Ahmad Al Sabah Hospital, Kuwait, between March 1, 2020, and April 30, 2020. The risk factors associated with in-hospital mortality were assessed using multiple regression analysis. RESULTS: We recruited a total of 103 ICU patients in this retrospective cohort. The median age of the patients was 53 years and the fatality rate was 45.6%; majority (85.5%) were males and 37% patients had more than 2 comorbidities. Preexisting hypertension, moderate/severe acute respiratory distress syndrome, lymphocyte count <0.5 × 109, serum albumin <22 g/L, procalcitonin >0.2 ng/mL, D-dimer >1,200 ng/mL, and the need for continuous renal replacement therapy were significantly associated with mortality. CONCLUSION: This study describes the clinical characteristics and risk factors for mortality among ICU patients with CO-VID-19. Early identification of risk factors for mortality might help improve outcomes.

Maternal and perinatal characteristics and outcomes of pregnancies complicated with COVID-19 in Kuwait.

BACKGROUND: The effect of SARS-CoV-2 infection in pregnant women and newborns is incompletely understood. Preliminary data shows a rather fluctuating course of the disease from asymptomatic or mild symptoms to maternal death. However, it is not clear whether the disease increases the risk of pregnancy-related complications. The aim of the study is to describe the maternal and neonatal clinical characteristics and outcome of pregnancies with SARS-CoV-2 infection. METHODS: In this retrospective national-based study, we analyzed the medical records of all pregnant women infected with SARS-CoV-2 and their neonates who were admitted to New-Jahra Hospital (NJH), Kuwait, between March 15th 2020 and May 31st 2020. During the study period and as part of the public health measures, a total of 185 pregnant women infected with SARS-CoV-2, regardless of symptoms, were hospitalized at NJH, and were included. Maternal and neonatal clinical manifestations, laboratory tests and treatments were collected. The outcomes of pregnancies included miscarriage, intrauterine fetal death (IUFD), preterm birth and live birth were assessed until the end date of the outcomes follow-up (November 10th 2020). RESULTS: A total of 185 pregnant women infected with SARS-CoV-2 were enrolled with a median age of 31 years (interquartile range, IQR: 27.5-34), and median gestational age at diagnosis of SARS-CoV2 infection was 29 weeks (IQR: 18-34). The majority (88%) of these women had mild symptoms, with fever (58%) being the most common presenting symptom followed by cough (50.6%). At the time of the analysis, out of the 185, 3 (1.6%) of the pregnant women had a miscarriage, 1 (0.54%) had IUFD which was not related to COVID-19, 16 (8.6%) had ongoing pregnancies and 165 (89%) had a live birth. Only 2 (1.1%) of these women developed severe pneumonia and required intensive care. A total of 167 neonates with two sets of twins were born with median gestational age at birth was 38 (IQR: 36-39) weeks. Most of the neonates were asymptomatic, and only 2 of them tested positive on day 5 by nasopharyngeal swab testing. CONCLUSIONS: In this national-based study, most of the pregnant women infected with SARS-CoV-2 showed mild symptoms. Although mother-to-child vertical transmission of SARS-CoV-2 is possible, COVID-19 infection during pregnancy may not lead to unfavorable maternal and neonatal outcomes.

Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in the IDUA gene. Early treatment with hematopoietic stem cell transplantation and/or enzyme replacement therapy is associated with improved outcomes in this progressive multisystem disease. The diagnosis is usually delayed due to late presentation and non-specific symptoms, which result in high morbidity and mortality. The incidence of MPS I is unknown in Kuwait. This pilot study was undertaken to screen MPS I in all Kuwaiti neonates born at Farwaniya Hospital (FH), a major center in Kuwait, over 12 months. This study examined the incidence of MPS I for inclusion in the national newborn screening (NBS) to enable its early detection and adequate treatment. All Kuwaiti neonates born at FH between December 2021 and December 2022 were screened for MPS I. The screening consisted of determining IDUA enzyme activity in dried blood spot-derived samples using tandem mass spectrometry. A follow-up genetic analysis of the IDUA gene has been planned to screen the cases with diminished IDUA enzyme activity as second-tier testing. A total of 618 newborns, including 331 (54%) boys and 287 (46%) girls, were screened. Of them, 20 had deficient IDUA enzyme activity but showed negative genetic testing. However, we have diagnosed one additional female infant with MPS I who belonged to FH, but the parents chose to deliver in a private hospital. The molecular genetic study revealed the presence of a previously reported pathogenic nonsense variant in the IDUA c.1882C>T, which is associated with severe phenotype. That being included, MPS I is estimated to be approximately 0.2% of all screened cases in Kuwait. Our study is the first to evaluate the incidence of MPS I in Kuwait. Given the single center, small number of screened infants, and the short study duration thus far, it is premature to calculate the incidence. It is anticipated that as the study continues, we would be able to estimate the incidence in our population correctly. Screening newborns in all maternity hospitals in Kuwait is necessary to calculate the actual incidence of this severe disorder. Still, our preliminary data support the inclusion of MPS I in national NBS program to allow early initiation of treatment and thus improve disease outcome.

Glottal Features in Vocal Assessment Following Thyroidectomy.

OBJECTIVES: Vocal dysfunction is a frequent complication following thyroidectomy that can be associated with a negative impact on patients' quality of life. Although the effect of thyroidectomy on acoustic features has been widely studied, the examination of glottal flow characteristics to assess vocal outcomes following thyroid gland surgery has not been included in empirical research, to date. The goal of our study was to evaluate early and short-term vocal outcomes following thyroidectomy based on the analysis of glottal acoustic features during speech production. STUDY DESIGN: Prospective analytical study. MATERIALS AND METHODS: We evaluated vocal outcomes in patients who underwent thyroidectomy between September 2021 and March 2022. We extracted glottal flow features from their vocal recordings preceding surgery and postoperatively at Day1 and Month1 postoperatively. The extraction of glottal features was performed using a signal processing-based approach. We extracted the following features: Open quotients (OQ1 and OQ2), Quasi-open quotient (QoQ), Closing quotient (ClQ), Amplitude quotient (AQ), Normalized Amplitude quotient (NAQ) and Speed quotients (SQ1 and SQ2). We included 39 patients. OQ2 and QoQ decreased significantly at Day1 and Month1. OQ1 and NAQ decreased significantly at Month1. ClQ remained stable at both postoperative assessments. AQ decrease was not significant at both dates. SQ1 increased at Day1 and Month1 but the change was not significant. SQ2 decreased significantly at both Day1 and Month1. OQ, QoQ, AQ, NAQ, and SQ2 did not recover at Month1. We noted that the decrease of SQ1 and SQ2 correlated significantly with the increase of the Voice Handicap Index-10 (VHI-10) at Month1. CONCLUSION: The analysis of glottal acoustic features can be a reliable modality to detect vocal changes following thyroidectomy. Thyroidectomy was associated with a vocal dysfunction that was manifested by the decrease of open, amplitude, and speed quotients. Glottal features can present a potential tool to objectively assess the effect of thyroidectomy on vocal folds movements.

Multiple Retained Needles in the Neck of a Drug User: A Case Report.

Retained needles are frequently observed in intravenous drug users. However, an incidental discovery of multiple needles at the neck seldom occurs. These foreign bodies remain either asymptomatic or cause local and central complications that can be fatal. We report the case of a 43-year-old male having a medical record of human immunodeficiency virus and hepatitis C who presented to our department with a 3-day history of a febrile lateral neck swelling. He reported a history of repetitive intravenous drug use and previous abscesses that were surgically drained. We noted a left and tender 8 cm neck swelling with torticollis. Computed tomography scan showed a collected myositis of the sternocleidomastoid muscle in association to multiple metallic foreign bodies at the neck that were compatible with the aspect of broken needles. Imagery also showed a thrombosis of the ipsilateral jugular vein. No central embolism of a foreign body was noted. We performed a surgical drainage of the muscular abscess and managed to retrieve a 1 cm broken needle that was retained at the level of the collection. We did not retrieve the other needles since they were asymptomatic. The patient was placed under intravenous antibiotics for 1 week followed by oral amoxicillin-clavulanate with a total regression of the cellulitis. At the further follow-ups, the rest of the foreign bodies remained asymptomatic. Our study emphasizes on the importance of suspecting a retained foreign body in intravenous drug users to ensure an adequate management of the possible complications and to protect the medical team from incidental needle injuries.

Hyoid Bone Fracture Secondary to a Blunt Neck Trauma: A Report of 2 Cases.

Hyoid bone fracture unrelated to strangulation is a rare occurrence characterized by a subtle presentation. However, it may manifest as a fatal respiratory distress due to airway obstruction. We present 2 cases of hyoid bone fractures that occurred following a traffic accident in 2 male patients. Both patients presented with either a neck pain or a dysphagia. Physical examination findings were limited to neck sensibility at palpation, saliva stasis, and laryngeal congestion at the laryngeal endoscopy. In both patients, the diagnosis was confirmed through computed tomography. In the first patient, the fracture was simple and located at the body of the hyoid bone, while in the second patient, it involved the greater horn with a medial displacement of the fractured fragment. Due to the clinical presentation, we successfully treated both our patients conservatively through a 48 hour observation, analgesics, steroids, antibiotics, neck rest, and semiliquid diet. This study highlights a rare occurrence of 2 cases of hyoid bone fracture unrelated to strangulation, which emphasizes on the importance of a high clinical suspicion to make the diagnosis of this entity.

Aberrant Course of the Intratemporal Facial Nerve in Children with Congenital Hearing Loss.

Congenital facial nerve (FN) malformations are uncommon. Our aim is to determine the clinical and radiological features of FN malformations along with the associated cochlear and vestibular malformations. We conducted a retrospective study including children with a profound sensorineural hearing loss who were candidates for cochlear implantation. We evaluated the presence of FN malformations through temporal bone computed tomography scan and magnetic resonance imaging. We recorded an aberrant FN course in five out of 165 patients in a total of 9 ears. They consisted of a bifurcation of the mastoid segment, an anterior or posterior displacement of the labyrinthine segment and a hypoplasia of the geniculate ganglion. Associated inner ear malformations included vestibular aqueduct dilation, cochlear hypoplasia and total labyrinthine aplasia. We noted a bilateral agenesis of the cochlear nerve in three patients. Facial nerve malformations should be suspected in patients presenting a congenital hearing loss especially in association with other temporal bone malformations. Their pre-operative discovery is helpful in planning the surgical procedure.

A superior ophthalmic vein thrombosis following an acute pansinusitis: A case report.

INTRODUCTION AND IMPORTANCE: Superior ophthalmic vein thrombosis (SOVT) is a very rare condition that can occur following either septic or aspetic causes. Early recognition and management is important in order to avoid vision-threatening and fatal complications. CASE PRESENTATION: A 28-year-old man presented with orbital cellulitis complicating acute pansinusitis. CT scan revealed ipsilateral SOVT. The patient received intravenous antibiotics and anticoagulation with strict ophthalmic monitoring. No orbital complications were recorded during the course of treatment. CLINICAL DISCUSSION: SOVT is caused either by septic or aseptic causes. Treatment depends on the etiology. Corticosteroids and anticoagulants are controversial. CONCLUSION: Early diagnosis is key to successful management of SOVT.

COVID-19 Pandemic and Its Effect on Resident Physicians' Mental Well-Being: A Cross-Sectional Study in Kuwait.

OBJECTIVE: Concerns about COVID-19's long-term consequences on the mental health of frontline health professionals are mounting as the entire world strives anew to contain it. The primary objective of this research is to describe the impact of working during the COVID-19 pandemic on resident physicians' mental health. SUBJECT AND METHODS: A cross-sectional online survey using the Google Forms platform was conducted from May 1 to May 30, 2021, on 311 residents currently enrolled in a residency program at the Kuwait Institutional of Medical Specialization (KIMS). Socio-demographic details of each resident physician were collected and the scores related to depression, anxiety, and stress were measured using the previously validated depression anxiety stress scale-21 (DASS-21). RESULTS: Higher stress and depression scores were seen in those who were devoid of the option to work with COVID-19 patients, who reported that working during the pandemic affected their study schedule, and who lost off-service training time. Further, the anxiety scores were significantly higher in females. CONCLUSION: The impact of the ongoing pandemic on residents' mental health is grave, necessitating psychological treatment and support. The study discovered various factors linked to depression, anxiety, and stress. As a result, these aspects must be regarded to protect the doctors' mental health.

Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype.

Interstitial deletions in the long arm of chromosome 3, although relatively rare, have previously been reported to be associated with several congenital anomalies and developmental delays. Around 11 individuals with interstitial deletion spanning the region 3q21 were reported to have overlapping phenotypes, including craniofacial dysmorphism, global developmental delay, skeletal manifestations, hypotonia, ophthalmological abnormalities, brain anomalies (mainly agenesis of corpus callosum), genitourinary tract anomalies, failure to thrive and microcephaly. We present a male individual from Kuwait with a 5.438 Mb interstitial deletion of the long arm of chromosome 3 (3q21.1q21.3) detected on the chromosomal microarray with previously unreported features, including feeding difficulties, gastroesophageal reflux, hypospadias, abdomino-scrotal hydrocele, chronic kidney disease, transaminitis, hypercalcemia, hypoglycemia, recurrent infections, inguinal hernia and cutis marmorata. Our report expands the phenotype associated with 3q21.1q21.3 while summarizing the cytogenetics and clinical data of the previously reported individuals with interstitial deletions involving 3q21, thus providing a comprehensive phenotypic summary.

Sinonasal Burkitt Lymphoma in a 2-Year-Old Child: An Uncommon Case Report.

Burkitt Lymphoma (BL) is a highly aggressive B-type non-Hodgkin lymphoma. It rarely develops at the level of the sinonasal cavities, especially in young children. We present the case of a 2-year-old boy who presented with a 2-month history of nasal obstruction, snoring, and epistaxis followed by a recent dyspnea. Examination revealed a protruding tissue mass in the left nasal cavity. Computed tomography scan showed a homogenous soft-tissue mass in the left nasal cavity extending toward the ipsilateral orbit, infratemporal fossa, nasopharynx, as well as the ethmoid and maxillary sinuses. Magnetic resonance imaging revealed a homogenous infiltrating mass with a hypo-intense signal on T2-weighted images reaching the infratemporal fossa and oropharynx. Biopsy confirmed the diagnosis of BL. The patient was referred to the clinical hematology department and received complex chemotherapy. Following chemotherapy, imaging revealed significant regression of the mass. We performed a nasopharyngeal biopsy which confirmed the absence of any persistent disease. This case report highlights a rare case of an extensive sinonasal BL emphasizing the importance of a high level of suspicion to ensure an early diagnosis and treatment.

Ketamine infiltration improves analgesia after thyroid surgery.

Background: Postoperative pain increases the risk of postoperative complications and may predispose patients to chronic post-surgical pain. This study aims to evaluate the impact of ketamine wound infiltration versus placebo at the end of thyroid surgery on postoperative pain and analgesic requirements. Methods: In this randomized controlled trial, we prospectively studied patients who underwent thyroid surgery. Patients were randomized into two groups: group S, where local infiltration was performed using 10 ml of a physiological saline solution; and group K, where 10 ml of a solution containing 2 mg/kg ketamine was infiltrated. Standardized thyroidectomies were performed in the 2 groups. Pain perception was measured using a visual analog scale (VAS) every 10 minutes in the post-anesthetic care unit (PACU) for 2 hours and thereafter every 6 hours during the first 24 hours. The opioid requirement in the PACU was evaluated. A comparison between the 2 groups was carried out. Results: Postoperatively, the mean VAS was higher in group S compared to group K during all PACU stay periods and the first 24 hours. Pain scores during swallowing were significantly lower for group K in the PACU at 0, 10, and 20 minutes. The mean morphine consumption in the PACU was 0.71 mg and 0 mg respectively in group S and group K (p=0.03). The incidence of nausea and vomiting was similar in both groups. Conclusions: Ketamine wound infiltration is an efficient modality to reduce postoperative opioid consumption compared to a placebo after thyroid surgery.

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations. METHODS: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD. RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Most cases (86%) presented with confusion, dystonia, convulsions, or dysarthria, while three individuals were diagnosed pre-symptomatically during familial targeted genetic screening. Symptoms resolved completely within 2-week of treatment in two-thirds of the symptomatic cases but progressed in six of them to a variety of severe symptoms including severe cogwheel rigidity, dystonia and quadriparesis due to delayed presentation and management. Neuroradiological findings of the symptomatic cases revealed bilateral central changes in the basal ganglia. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases. Age of diagnosis ranged from newborn to 32 years, with a median age of 2-3 years. All cases are still alive receiving high doses of biotin and thiamine. CONCLUSION: This is the first study reporting the phenotypic and genotypic spectrum of 21 individuals with BTBGD in Kuwait and describing two novel SLC19A3 variants. BTBGD is a treatable neurometabolic disease that requires early recognition and treatment initiation. This study highlights the importance of performing targeted molecular testing of the founder variant in patients presenting with acute encephalopathy in the region.