Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.

Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder of resistance to aldosterone and presents with hyponatremia, hyperkalemia, and metabolic acidosis. Cohen syndrome (CS) is another rare inherited disease. Concurrent presentation with pseudohypoaldosteronism makes it so extraordinary and implies more challenges for clinicians. We report a case of a female with Cohen syndrome (novel mutation) and systemic pseudohypoaldosteronism, as well as the challenges we have encountered in the management of this patient.

Prevalent Parental Practice Toward Drug Storage and Disposal.

Introduction The environment, healthcare services, and public safety can all be directly impacted by improper drug storage and disposal practices. It is unknown whether parents store drugs at home in accordance with recommended storage guidelines, despite the fact that storage conditions are strictly regulated and monitored at every stage of the drug supply chain prior to drug dispensing. Therefore, it is crucial to dispose of medications properly and store them at home to avoid the consequences. Aim The purpose of this study was to evaluate the drug storage safety measures used by parents to prevent unintentional drug poisoning in children. Methodology A structured questionnaire was used to conduct a cross-sectional, interview-based study on home medication storage, attitudes, and disposal practices between October 2023 and January 2024. We recruited parents who visited primary healthcare centers or pediatric clinics using a convenience sampling technique. Results All of the 353 returned questionnaires were valid for data entry and analysis. The mean age of the parents was 35.1 ± 11.9 years old and more than half of them 229 (64.9%) have bachelor's degrees. The majority of drugs (271, 88.6%) were stored in the fridge, followed by bedrooms (26.8%). The medication classes that were stored the most frequently were analgesics (92.2%) and antihistamines (62.1%). The majority of parents (214, 69.9%) kept medications above adult eye level, even though only 28% did not keep them in safe and secure locations like locked drawers or boxes. Eighty percent (80%) disposed of unwanted medicines by throwing them in the trash, and only 10 (2.8%) returned them to the pharmacy.  Conclusions Drug storage at home encourages self-medication, which has a number of negative effects. Over time, there has been an increase in the use of medications due to a rise in people's health-seeking awareness and behavior on a global scale. Therefore, this study may be used as a guide by national policy-makers for pharmaceutical disposal and storage management. Moreover, it might help in raising public awareness of the importance of pharmacists in the society and the safe handling and storage of medications at home.

Effectiveness of Insulin Pump Therapy Versus Multiple Daily Injections for Glycemic Control and Rate of Diabetic Ketoacidosis Among Children With Type 1 Diabetes Mellitus.

Background Advances in pump technology and the availability of insulin analogs, as well as the results of the Diabetes Control and Complications Trial (DCCT), which established the benefit of improved glycemic control, have all contributed to the increased use of insulin pump therapy in recent years, particularly in children. Purpose This research aims to compare the impact of insulin delivery method, i.e., continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI) on glycemic control and the rate of diabetic ketoacidosis (DKA) among children with type 1 diabetes mellitus in Al Ahsa, Saudi Arabia. Methods  A retrospective cohort study was carried out in a diabetic center in Al Ahsa, Saudi Arabia, over 24 months (2020-2022) among children with type I diabetes mellitus (age group 1-14 years). Results  In total, 351 patients with diabetes were induced, with 316 (90%) on MDI and 35 (10%) on CSII. After six months of diagnosis, precisely 38 (12%) of patients with diabetes on the MDI regimen experienced DKA, compared to 4 (11.4%) of those on the CSII regimen, with no statistically significant difference (P=0.918). At six months and nine months of follow-up, the average hemoglobin A1c (HbA1c) was considerably higher in diabetic patients on MDI (8.9 ± 1.7% vs. 8.2 ± 1.5% and 9.1 ± 1.6% vs. 8.0 ± 1.3%, respectively, with a significant p-value ≤0.05). Conclusion In this study, we found that patients on the MDI regimen had considerably higher HbA1c levels than patients on the CSII regimen, but there was no statistically significant difference in DKA rates between them. This is a short-term follow-up study, and we recommend that patients be followed for a longer period of time for further accurate outcomes.

Factors Influencing Visits to the Pediatric Emergency Department.

Introduction Overcrowding in emergency departments (EDs) is still a national and international issue. Among the variables contributing to this crisis are an increase in patient numbers and the severity of sickness. One significant issue that has not yet been addressed and is burdening healthcare facilities is the use of EDs by parents of children who have mild illnesses. Developing successful interventions requires an understanding of the factors that lead to nonurgent visits to pediatric EDs (PEDs). Our objective was to assess the variables that could influence parental visits to PEDs. Methodology In the Eastern Region of Saudi Arabia, between September and November 2023, a descriptive cross-sectional survey was conducted among parents who had previously visited a PED. The survey had 21 questions. Along with parental viewpoints and healthcare utilization, parents' evaluations of their child's emergency state were investigated. In addition to gathering and evaluating demographic data, the survey evaluated respondents' impressions of the severity of a disease or injury. Results A total of 776 participants were included in the study. The mean parental age was 32.1 ± 12.7 years, and approximately 32.1% of the participants' children were between the ages of 1 and 5. Nearly half of the children, 44.7%, visited the ED during the evening shift. The most common reasons for presenting were fever (50.5%) and upper respiratory tract symptoms (37.1%). Among these visits, parents perceived 48.5% as nonurgent and 30.2% as urgent. The majority of respondents (54.9%) had received advice before going to the ED. In most cases (47.9%), this was from a relative or a healthcare provider (16.7%). Conclusion This analysis identified some of the reasons parents bring their children to the ED for mild illnesses. The results emphasized the varied nature of the problem. Understanding the reasons for parental ED visits may help us better design targeted interventions to decrease unnecessary visits and lessen the burden on healthcare systems.

The Prevalence and Associated Risk Factors for Neonatal Thrombocytopenia Among Newborns Admitted to the Neonatal Intensive Care Unit.

Background Thrombocytopenia is the most prevalent hematological condition in neonates that develops in the neonatal intensive care unit (NICU). This set of illnesses is caused by either decreased platelet production due to placental insufficiency, increased platelet breakdown (consumption), or a combination of the two causes. Based on platelet count, it is defined as mild, moderate, or severe thrombocytopenia, with early and late onset. Purpose The purpose of this study is to determine the prevalence of thrombocytopenia and the factors that contribute to it in newborns hospitalized in the neonatal critical care unit at the Maternity and Children Hospital in Al Ahsa, Saudi Arabia. Methods This descriptive retrospective cross-sectional study was carried out at the NICU of the Maternity and Children Hospital in Al Ahsa, Saudi Arabia, over the span of one year (August 2022 to August 2023) among hospitalized neonates with thrombocytopenia. Thrombocytopenia is defined as a platelet count of 150,000 or less. These patients were monitored until they recovered or died. Results The inclusion criteria were met by a total of 242 newborns with thrombocytopenia. Half of the neonates (57%) were full-term, with Apgar scores greater than 5 at the first (84%) and fifth (93%) minutes, respectively. The great majority of individuals (84%) experienced early-onset thrombocytopenia of mild severity (62%) and were asymptomatic (93%). The majority of the cases resolved spontaneously, with only 21% requiring platelet transfusion. There was a significant relationship discovered between gestational age and the severity of thrombocytopenia, with very preterm infants having moderate to severe thrombocytopenia, as well as birth weight (p=0.001). Furthermore, neonates with severe thrombocytopenia had a considerably higher mortality rate (p=0.001). Conclusion The mortality and morbidity of newborns with perinatal risk for neonatal thrombocytopenia can be reduced with timely detection of the cause and development of thrombocytopenia, as well as adequate and early care.

Predictive Factors of Hospitalization and Emergency Visits Among Children With Asthma.

Introduction A chronic diverse inflammatory disease, asthma affects millions of people worldwide. To control asthma, standardized care is essential. Children with asthma who receive appropriate care have lower emergency room (ER) visits and hospital stays as well as a higher quality of life than children who do not receive appropriate care. We aim to evaluate the predictive variables of hospitalization and ER visits in children with asthma. Methodology In 2022 and 2023, a cross-sectional descriptive study was carried out on children with asthma and their caregivers who were attending primary health care clinics in the eastern region of Saudi Arabia. We used the Childhood Asthma Control Test (C-ACT) to evaluate asthma control. A C-ACT score of less than 19 indicates uncontrolled childhood asthma. To investigate the relationships between the risk factors and the rate of ER visits and hospitalizations, we performed a multiple logistic descriptive analysis. Results In this study, 124 asthmatic children from primary health care centers matched the inclusion criteria. The majority of children had atopy, and their mean age was 10.8±3.4 years. Concerning the risk factors linked to ER visits and hospitalization, there is evidence that not following up with physicians, using more frequent and short-acting beta-agonists, exposure to smoke and household pets, and poor asthma control are linked to increased rates of both ER visits and hospitalizations. Conclusion Better asthma control in children and adolescents may be achieved by providing inexpensive asthma care services, more thorough parental and child education, and effective symptom management. These measures can help reduce exacerbations of asthma and the consequences that accompany them.

DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.

The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios, macrosomia, facial dysmorphism, renal dysplasia, and several congenital abnormalities with Wilms tumor propensity are its defining features. Beckwith-Wiedemann syndrome (BWS), prune belly syndrome (PBS), and Simpson-Golabi-Behmel syndrome (SGBS1) have certain similar clinical characteristics with Perlman syndrome. The syndrome is often associated with a high neonatal mortality rate and there are few reports of long-term survivors. Here, we present a case with the classic clinical features of Perlman syndrome and a DIS3L2 gene deletion that was discovered prenatally.

Pattern and Frequency of Nosocomial Infections in the Pediatric Intensive Care Unit at East Jeddah General Hospital, Saudi Arabia.

Background Because of the use of invasive devices and procedures in critically sick patients, patients in the pediatric intensive care unit (PICU) are particularly vulnerable to nosocomial infections. Although a significant illness may necessitate admission to the PICU, infections can also emerge after admission. Nosocomial infection is a major public health issue related to increased morbidity, death, and healthcare costs. This study aimed to determine the pattern, frequency, and outcomes of nosocomial infections among children who were admitted to the PICU. Methodology This retrospective, cross-sectional study was conducted in the pediatric population aged from one month to 14 years old who acquired infections after 48 hours of admission to the PICU at East Jeddah General Hospital, Saudi Arabia from 2021 to 2022. The data were collected from medical and laboratory records. Results A total of 51 patients developed 145 nosocomial infections. Central line-associated bloodstream infections (CLABSIs) were the most commonly reported type of nosocomial infections (28.3%). The majority of the isolated organisms (58.7%) were gram-negative, followed by fungal infections (35.1%) and gram-positive organisms (6.2%). The death rate for patients with nosocomial infections was 29.4%. Increased death rates among individuals with CLABSIs and gram-negative isolates were observed to be significantly correlated (p = 0.001). Conclusions Our findings suggest that regular surveillance systems were necessary to assess the relationship between these well-known risk variables with PICU, implying that preventing these infections through particular treatments could be cost-effective and contribute to the safety of healthcare systems.

Complete Currarino Triad Presenting With Chronic Constipation.

Currarino syndrome (CS) is a congenital disorder that is characterized by the triad of anorectal malformation, sacrococcygeal anomalies, and a presacral mass. The inheritance of CS is autosomal dominant. Chronic constipation is the most common symptom of CS. MRI is considered the most sensitive test to diagnose CS. The report describes an eight-month-old baby girl who presented with chronic constipation. Physical examination showed abdominal distension and anal stenosis. Plain radiographs and MRI revealed sacrococcygeal abnormalities with a presacral mass. A patient was diagnosed with Currarino syndrome and managed surgically with excision of the presacral mass and an anorectoplasty via a posterior sagittal midline incision.

Kikuchi-Fujimoto Disease Following COVID-19.

Kikuchi-Fujimoto Disease (KFD) is a rare self-limiting condition of unknown etiology. It is characterized by fever, and lymphadenopathy most commonly involving posterior cervical lymph nodes. Although it is of uncertain etiology, it is associated with viral infections and autoimmune diseases. Distinction from lymphadenopathy-associated alternate disorders is crucial to avoid unneeded diagnostic procedures and treatment. KFD is diagnosed based on histopathologic examination of the excised lymph node. The management is supportive with favorable outcomes within a few weeks or months. In this case, we describe a 13-year-old boy who complained of painful cervical lymphadenopathy and fever for more than three weeks following COVID-19. Diagnostic workup has been established and KFD diagnosis made based on the histopathologic features of the involved lymph node. The patient showed complete recovery with no recurrence during follow-up. So, this case highlights the possible association between COVID-19 and KFD during this pandemic and keeping it in the differential diagnosis.

Cerebral Venous Sinus Thrombosis is a Reversible Complication of Ulcerative Colitis.

Patients with inflammatory bowel disease (IBD) are at higher risk of venous thrombosis than the general population, with thromboembolism being a recognized extraintestinal manifestation. Although thrombotic events typically present as deep vein thrombosis and pulmonary embolism, other presentations are possible. Cerebral venous sinus thrombosis (CVST) is a relatively rare example associated with high morbidity and a mortality rate of 50% when misdiagnosed or the diagnosis is delayed. Despite this, CVST is a reversible complication with favorable outcomes when diagnosed early and treated appropriately. In this report, we present a case of cerebral sinus thrombosis in a 35-year-old female during a relapse of ulcerative colitis. During the relapse of ulcerative colitis, CVST manifested with a seizure, focal neurological deficit, and altered mental status. After blood workup, magnetic resonance imaging (MRI), and venography, the diagnosis of CVST was confirmed. We immediately started the patient on low-molecular-weight heparin, and during a six-month follow-up period, she made a full recovery with recanalization of the thrombosis on imaging. Despite CVST being a fatal complication of IBD, our report and data in the literature indicate that full remission is possible when it is correctly diagnosed and treated.

Partial Molar Pregnancy With Normal Karyotype.

Partial molar pregnancy results from fertilization of a haploid ovum by two sperms or duplication of one sperm, resulting in a triploid karyotype. The coexistence of partial mole with normal fetus karyotype is rare and occurs in 0.005-0.01% of all pregnancies. It is considered a challenging diagnosis. Here, we report a case of a 38-year-old primigravida diagnosed indecently at 16 weeks of gestation. She was on regular antenatal care and had partial molar pregnancy with a female fetus with diploid karyotype and no apparent malformation. This pregnancy ended with intrauterine fetal death. Histological examination of the placenta showed partial hydatidiform mole changes.

An Incidental Finding of Asymptomatic Gastric Diverticula.

Gastric diverticula (GD) are the rarest of the gastrointestinal diverticula and are characterized by protrusions of the stomach wall, that can either be congenital or acquired. Despite the fact that the majority of GD are asymptomatic and are detected inadvertently during endoscopy or gastrointestinal (GI) series studies, they might present with a variety of symptoms, including abdominal pain, vomiting, and weight loss. In mild symptomatic instances, GD is treated conservatively with antacids, but surgical excision is indicated for refractory gastric diverticula with persistent symptoms or complications. We represent an incidental finding of asymptomatic gastric diverticulum through endoscopy for a 12-year-old Saudi male who presented after foreign body ingestion.

Pediculosis Is a Risk Factor for Iron Deficiency Anaemia.

Pediculosis capitis is obligate ectoparasite that lives and feeds on host blood, affecting commonly children. Lice are transmitted easily and respond to topical treatment with good personal hygiene. Chronic infestation can lead to different complications such as bacterial infection dermatitis and anaemia. Haematological complications are not reported frequently. We report a case series of five patients presented with a clear manifestation of anaemia with heavy lice infestation. Laboratory evaluation revealed microcytic hypochromic anaemia (red blood cell indices) with low serum iron levels and other causes that were excluded. All patients who were admitted received blood transfusions. There was not a possible explanation for this severe anaemia other than head lice.

Vitamin D Serum Levels in Type 2 Diabetic Patients: A Cross-Sectional Study.

Background and objective Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by hyperglycemia. It is linked with an increase in morbidity (e.g., blindness, kidney failure, stroke, cardiovascular diseases, limb amputations), premature mortality, high healthcare costs, and is quickly becoming a global epidemic disorder. Several studies have shown that vitamin D supplements reduce insulin resistance in T2DM and improve insulin secretion and sensitivity. In this study, we aimed to determine the prevalence of vitamin D deficiency in T2DM patients in Saudi Arabia. Methods This was a retrospective cross-sectional study conducted at the King Faisal University Health Centre in Saudi Arabia. The study used patient data during the period from October 2014 to January 2021. After obtaining approval from the King Faisal University Polyclinic Administration, we collected patient data from the King Faisal University Health Centre. The Ethics and Research Committee at the College of Medicine of King Faisal University granted ethical approval with the approval number (2020-11-82). The relevant patient data were collected, including age, gender, nationality, and blood test findings (vitamin D and HbA1c levels). Results A total of 191 T2DM patients participated in this study. The mean age of the patients was 56.1 ± 11.4 years (range: 21-85 years); 107 (56%) patients were females, and 137 (71.7%) were Saudis. There were 134 (70.2%) patients with vitamin D deficiency, 53 (27.7%) with vitamin D insufficiency, and only four (2.1%) with normal vitamin D levels. Conclusion Based on our findings, the prevalence of vitamin D deficiency among T2DM patients is highly associated with poor diabetic control.

Foreign Body Ingestion: A Common Presentation Among Pediatric Age Group in the City of AlAhsa Eastern Province, Saudi Arabia.

Background Foreign body ingestion is a prevalent issue among children and presents considerable morbidity and mortality rates. Due to children's increased accessibility to electronic toys and equipment, foreign body ingestion has become a common reason for presenting to pediatric emergency departments worldwide. In this context, this research aims to determine the prevalence of foreign body ingestion among children in AlAhsa, Saudi Arabia. Methodology This observational retrospective descriptive study was conducted at Maternity and Children Hospital, AlAhsa, Saudi Arabia, from 2017 to 2021. The study included children (less than 14 years old) who presented to the emergency department with a history of foreign body ingestion. The biographical data, clinical presentation, type of foreign body, and X-ray findings were documented. Results A total of 91 cases of foreign body ingestion or aspiration in children under 14 years of age were included. Approximately half of the patients were under the age of three, and 62.2% of them were male, while 37.8% were female. The clinical presentation revealed that only 24% were symptomatic. Coins were the most commonly ingested foreign bodies (28.9%), followed by metallic objects (20%), and batteries were the least frequently ingested foreign bodies, recorded in eight cases. Conclusion Early detection and treatment of foreign body ingestion is crucial to prevent consequences. In this study, the most frequent foreign bodies detected were coins among children up to three years old. Raising parents' awareness about the prevention of foreign body ingestion is an important step toward reducing its incidence.

Migraine Headache and the Risk of Depression.

BACKGROUND:  Migraine is a primary headache and a complicated neurological disorder with sensory and autonomic abnormalities. Many variables, including genetic and psychological ones, contribute to migraine onset and development. Anxiety and depression are typical psychiatric comorbidities among migraineurs. This kind of comorbidity increased migraine chronicity, treatment effectiveness, and the likelihood of additional comorbidities. The purpose of this research was to determine the prevalence of depression among Saudi migraine sufferers in AlAhsa. METHODS:  Descriptive cross-sectional research of 101 migraine patients at King Fahd Hospital-Hofuf, AlAhsa, Saudi Arabia from May to December 2021. Depression was assessed by Patient Health Questionnaire which is a reliable tool (PHQ-9). The PHQ-9 measures the presence and severity of depression. Consider sociodemographic, clinical, and individual variations that impact migraine development and prognosis.  Results: The inclusion criteria were satisfied by 94 migraine patients in total, with a mean age of 36.9 ± 9 years and they are predominantly females 75.5%. The majority of the participants (76.6%) were on medication to relieve migraine attacks and only 13.9% reported that >75% of attacks were relieved by medication. Almost all of the patients (96.8%) used to drink coffee and tea. The prevalence of depression and migraine was revealed to be 42.6% mild and 8.5% severe among the participants. Four statistically significant correlations (p < 0.05) were young age, being female, low level of education at higher risk to have depression compared to another group of migraineurs. CONCLUSION:  A neurological disorder that commonly causes disability is migraine. Numerous studies have shown that mood disorders and migraines are often co-occurring, and these individuals are more likely to have a migraine-related disability. This research has shown that it is beneficial to prevent psychiatric comorbidity by using PHQ-9 as a regular screening tool for migraine patients.

Acute Pancreatitis as a Complication of Intragastric Balloon.

The intragastric balloon is a common minimally invasive procedure used prior to bariatric surgery for weight reduction. There are complications of this balloon with varying degrees of severity ranging from mild to severe life-threatening complications. Acute pancreatitis due to direct compression or catheter migration of the balloon should be considered in these patients. In the literature, there is little evidence that intragastric balloons could cause acute pancreatitis. We present two cases in which they had a history of IGB insertion complicated by acute pancreatitis. The diagnosis of acute pancreatitis due to the intragastric balloon was made after excluding other possible causes of acute pancreatitis. Both patients were hospitalized and managed conservatively.

Situs Inversus Totalis in Association With Duodenal Atresia.

Situs inversus totalis is the mirror image transposition of the abdominal-thoracic viscera. Approximately one in every 5,000 to 20,000 live births has situs inversus totalis. Most commonly, it is found incidentally and is asymptomatic. A number of malformations, including cardiac, splenic, and gastrointestinal, have been associated with this condition. Coexistence with duodenal atresia is extremely rare, reported in fewer than 30 cases worldwide and one case in Saudi Arabia. We report a preterm neonate who presented with bilious vomiting. Diagnosis of situs inversus totalis with duodenal atresia type III was established and other anomalies were ruled out. The patient was managed surgically by duodenal-duodenostomy and Ladd's procedure. The report emphasizes the importance of identifying this condition and recognizing the "mirror anatomy" before carrying out an operation. Once the diagnosis is confirmed, surgical intervention must be performed as soon as possible to prevent complications.

Correlation of 25-Hydroxyvitamin D and Serum Lipid Levels Among Patients With Type 2 Diabetes.

Introduction Type 2 diabetes mellitus (T2DM) is a well-known health care problem. The is a growing interest in the role of vitamin D in metabolism including glucose and lipid metabolism. This study aims to investigate the possible association between 25-hydroxyvitamin D levels and serum lipid levels among patients with T2DM. Method A cross-sectional study was done at the King Faisal University Health Care Center in the Eastern Region of Saudi Arabia. Ethical approval was obtained from the Ethics and Research Committee at the College of Medicine, King Faisal University. We obtained the clinical and laboratory data of patients with T2DM by searching the electronic files of patients attending the center during the period between 2014 and 2021. Data collected included age, gender, nationality, vitamin D levels, HbA1c, and lipid levels. The chi-square and independent sample t-tests were applied when appropriate, for comparisons between groups to determine significance. A P-value of less than 0.05 was considered statistically significant. Result The study included 191 diabetic patients, 137 (71.7%) from Saudi Arabia, and 54 (28.3%) from other countries. Patient ages ranged from 21 to 100 years with a mean age of 56.2 ± 11.8 years. Cholesterol levels were observed to be high among 61 (32.3%) patients. Considering vitamin D, the average level among male patients was 26.526 ng/ml compared to 26 ng/ml% among females (P = 0.742).  Conclusion Further long-term and more comprehensive randomized controlled trials are needed to make a firmer conclusion and stronger evidence on this beneficial role of vitamin D treatment on T2DM.