Positive Consanguinity Research Articles

Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

To evaluate the diagnostic yield of prenatal exome sequencing (pES) in fetuses with structural anomalies detected by prenatal ultrasound in a consanguineous population. This was a prospective study of 244 anomalous fetuses from unrelated consanguineous Egyptian families. Detailed phenotyping was performed throughout pregnancy and postnatally, and pES data analysis was conducted. Genetic variants were prioritized based on the correlation of their corresponding human phenotype ontology terms with the ultrasound findings. Analyses were carried out to determine the diagnostic efficiency of pES and its correlation to the organ systems involved. The largest clinical category of fetuses referred for pES was those manifesting multisystem anomalies (104/244, 42.6%). pES provided a definitive diagnosis explaining the fetal anomalies in 47.1% (115/244) of the cases, with the identification of 122 pathogenic or likely pathogenic variants completely fitting with the phenotype. Variants of uncertain significance associated with the fetal phenotypes were detected in 84 fetuses (34%), while 18.44% (45/244) had negative results. Positive consanguinity is associated with a high diagnostic yield of ES. The novel variants and new fetal manifestations, described in our cohort, further expand the mutational and phenotypic spectrum of a wide variety of genetic disorders presenting with congenital malformations.

Frequency and Impact of Constitutional Mismatch Repair Deficiency in Patients With High-Grade Glioma, a Retrospective Analysis of 7 Years in Pakistan: an IRRDC Study.

Constitutional mismatch repair deficiency (CMMRD) is a genetic cancer predisposition syndrome among children and young adults. This study aimed to evaluate the frequency of CMMRD among patients with pediatric high-grade glioma (pHGG) in a single tertiary care center in Pakistan, a country with high consanguinity rates. We reviewed the data of patients age <18 years with pHGG, anaplastic astrocytoma, and diffuse midline glioma (DMG) with CMMRD testing between 2016 and 2023. CMMRD testing was done using the Aronson et al criteria. A few patients were sent to Sick Kids, Toronto, to review the mismatch repair protein stains via multigene panels. Forty-seven patients were identified, with a median age of 11 years (IQR, 8-16). Headache (89.4%) was the most common symptom. Thirty-seven patients had hemispheric tumors; 12.8% and 8.5% had posterior fossa and midline tumors, respectively. Histopathology revealed 70.2% glioblastoma, 23.4% anaplastic astrocytoma, and 6.4% DMG. CMMRD was positive in 15 of 47 patients (31.9%). Eight patients had loss of PMS2. Three had loss of PMS2 and MLH1; two had loss of MSH6, one had loss of MSH6 and MSH2, and only one patient had loss of MSH2. Consanguinity and family history of malignancy correlated with CMMRD (P = .009, P = .031, respectively). Two-year overall survival of all patients was 23.4% (median follow-up, 0.59 years [95% CI, 0.000 to 1.171]). Two-year overall survival of mismatch repair deficiency-positive patients was 20% (median follow-up, 0.910 years [95 CI, 0.380 to 1.440]). We found a high frequency of CMMRD among patients with pHGG, particularly with positive consanguinity. Our study highlights the significance of genetic testing and surveillance. It is essential to develop low and middle income country-tailored protocols due to limited access and financial constraints associated with using immune checkpoint inhibitors.

Assessment of the effect of growth hormone therapy on quality of life among GHD and ISS children

Background Short stature can generate emotional and social stress in children and adolescents and their parents. Aim To assess the effect of growth hormone (GH) therapy on quality of life (QoL) among growth hormone deficiency (GHD) and idiopathic short stature (ISS) children. Patients and methods This cross–sectional study was conducted at the Suez Canal University endocrinology outpatient clinic in Ismailia City, Egypt, 194 children participated in this study. After receiving GH therapy for a year, children with ISS and GHD who met the inclusion and exclusion criteria were selected at random from the endocrinology outpatient clinic at Suez Canal University in Ismailia City, Egypt. A WHOQoL-BREF QoL evaluation was utilized in conjunction with health-related quality of life, and an Arabic translation of the questionnaire was used. Results This study included 194 children, 107 children with ISS, and 87 children with GHD. Group with ISS had a significantly higher mean of age (13.5±2.8) years than the GHD group (8.5±1.5) years with P value less than 0.001. So, most of the children in ISS group at preparatory school (11–14 years old), while GHD group were at primary school (8–10 years old) with statistically significant difference (P&lt;0.001). So, most of children in ISS group at preparatory school, while GHD group were at primary school with statistical significant difference (P&lt;0.001). Most of children in ISS group have rural residence, positive consanguinity and positive family history of short stature, while GHD group had urban residence, negative consanguinity, and negative family history of short stature with statistical significant differences (P&lt;0.001). Children with ISS had significantly lower height Z score before and after GH therapy as P value less than 0.001. Both groups showed statistically significant increase in height Z score after versus before GH therapy as P value less than 0.001. Mean WHOQoL-BREF domains scores showed a statistical significant increase after GH TTT, in both groups. Conclusion Our findings indicate that a year of GH treatment significantly improved physical, social, psychological and environmental QoL, whereas the physical effects—which are to be expected given the noticeable increase in height—seem to have less of an influence. This is probably connected to the mild physical effects of baseline short height. But there is a correlation between the change in QoL and the height gain in SD, which amply illustrates the role of statural rise in improving QoL.

Profile of Neuromuscular Disorders: Neurology Clinic, Tripoli Children Hospital

Abstract Objective Neuromuscular disorders (NMDs) are any diseases affecting the lower motor neuron (anterior horn cell, peripheral nerve, and neuromuscular junction) or muscle, all of which are components of motor unit. The aim of this study was to describe the clinical, demographic, and genetic profile of children diagnosed with different NMDs. Materials and Methods Descriptive case series study where clinical records for children with neuromuscular disorders (NMDs) how presented to the outpatient Neurology Clinic at Tripoli Children Hospital in the period from January 2015 to the date of data collection May 2023 have been reviewed to obtain the relevant information which include demographic data, parental consanguinity, family history of affected other members, diagnostic groups within NMDs used were spinal muscular atrophy (SMA) and its subtypes, Duchenne muscular dystrophy (DMD), limb girdle muscular dystrophy (LGMD) and any other NMDs, genetic testing results, ambulatory state at the time of data collection, age at death if occurred, mode of treatment (steroid for patients with diagnosis of DMD, oral Risdiplam/IV Zolgensma/intrathecal Spinraza for patients with SMA) and Genetic testing results and the eligibility to spesfic exon skipping therapy for DMD patients. Results The study revealed 53 patients with NMDs, which represent 3.8% of all neurological disorders. Of these, 32 (60.4%) were males and 21 (39.6%) were females. Patient ages ranged between 2 months and 20 years (mean = 10 years). SMA and DMD are more common than the other disorders. 77.4% of patients were have positive consanguinity and 66% are have family history. 54.7% of patients still have ability to walk independently. Four (7.5%) patients were died three of them were have diagnosis of SMA type 1 and they died before age of 18 months and the fourth who has diagnosis of SMA type 3 was die at age of 12 years. Conclusion Although neuromuscular disorders are rare as individual disease entities, as a group they are not. The retrospective study presented here could form the backbone of a future Libyan neuromuscular registry, which is necessary with many novel NMD therapies in pipeline.

Prospect of genetic disorders in Saudi Arabia.

Introduction: Rare diseases (RDs) create a massive burden for governments and families because sufferers of these diseases are required to undergo long-term treatment or rehabilitation to maintain a normal life. In Saudi Arabia (SA), the prevalence of RDs is high as a result of cultural and socio-economic factors. This study, however, aims to shed light on the genetic component of the prevalence of RDs in SA. Methodology: A retrospective study was conducted between September 2020 and December 2021at King Saud Medical City, a tertiary hospital of the Ministry of Health (MOH), SA. A total of 1080 individuals with 544 potentially relevant variants were included. The index was 738, and the samples were tested in a commercialized laboratory using different molecular techniques, including next-generation sequencing. Result: A total of 867 molecular genetics tests were conducted on 738 probands. These tests included 610 exome sequencing (ES) tests, four genome sequencing (GS) tests, 82 molecular panels, 106 single nucleotide polymorphism (SNP) array, four methylation studies, 58 single-gene studies and three mitochondrial genome sequencing tests. The diagnostic yield among molecular genetics studies was 41.8% in ES, 24% in panels, 12% in SNP array and 24% in single gene studies. The majority of the identified potential variants (68%) were single nucleotide variants (SNV). Other ascertained variants included frameshift (11%), deletion (10%), duplication (5%), splicing (9%), in-frame deletion (3%) and indels (1%). The rate of positive consanguinity was 56%, and the autosomal recessive accounted for 54%. We found a significant correlation between the ES detection rate and positive consanguinity. We illustrated the presence of rare treatable conditions in DNAJC12, SLC19A3, and ALDH7A1, and the presence of the founder effect variant in SKIC2. Neurodevelopmental disorders were the main phenotype for which genetics studies were required (35.7%). Conclusion: This is the sixth-largest local study reporting next-generation sequencing. The results indicate the influence of consanguineous marriages on genetic disease and the burden it causes for the Kingdom of SA. This study highlights the need to enrich our society's knowledge of genetic disorders. We recommend utilising ES as a first-tier test to establish genetic diagnosis in a highly consanguineous population.

Association Between COVID-19 Vaccination and Abortion: A Cross-Sectional Study in Jeddah.

Clinical trials for COVID-19 vaccines initially excluded pregnant women. However, observational studies revealed a relative safety of the vaccine during pregnancy therefore association between different types of COVID-19 vaccination and the risk of abortion must be studied. Objectives: The objective is to explore the possible association between abortion and different types of COVID-19 vaccination in Jeddah. This was a retrospective cross-sectional study done in three private general hospitals in Jeddah using electronic medical records and phone interviews of pregnant women who were admitted with abortion. Women were then interviewed for their vaccination data(type, dose) and their current pregnancy outcome (aborted or not). Medical records of 214 women diagnosed with abortion were included; 13.1% of them managed to continue their pregnancy. Vaccinated women (86%) had significantly earlier gestational age (p=0.031), higher hypertension (<0.001), and lower positive consanguinity (<0.001) compared to non-vaccinated women. The type (p=0.636) and number (p=0.331) of vaccination did not differ significantly among vaccinated women with and without abortion. Significant predictors of abortion were age>35 years (OR: 3.1, 95% CI: 1.34-6.97, p=0.008), diabetes (OR: 0.09, 95% CI: 0.01-0.89, p=0.040), and positive consanguinity (OR: 0.12, 95% CI: 0.02-0.63, p=0.012). However, spontaneous abortion did not have an increased odds of exposure to COVID-19 vaccines(OR: 1.07, 95% CI: 0.21-5.49, p=0.937). COVID-19 vaccination is notassociated with an increased risk of abortion in womenvaccinated during their first or second trimesters. Further clinical trials are needed to support the evidence of the safety of early vaccination of pregnant women.

Consanguineous marriage as a key indicator of isolated congenital dental anomaly among South Indian population - A cross-sectional study.

Orofacial anomalies occur due to incomplete fusion of developmental lines in the head and neck region. Dental anomalies regarded as the most common orofacial anomalies either in isolated or syndromic forms arise due to genetic and environmental factors. Among genetic influences, consanguineous marriages are considered as a significant predisposition factor in the transmission of congenital defects and several autosomal recessive diseases from one generation to other with an increased risk of detrimental effects on offspring. The present study was aimed to evaluate the prevalence and significant association between consanguinity and isolated dental anomalies with that of nonconsanguineous parents among south-Indian population. A total of 116 participants with and without dental anomalies in isolated form pertaining to tooth size, shape, altered morphology, number and eruption were selected followed by brief case history. Participants with a positive history of consanguinity were categorized as Group A while others were categorized under Group B. Sixty-four out of 116 participants (55.17%) showed positive consanguinity (Group A) among which 18 females (56%) and 14 males (44%) presented with isolated dental anomalies. 12 females (66.6%) and 9 males (64.2%) in Group A showed significance with first cousin (P = 0.00204) whereas no significance was observed in other consanguinity type (P = 0.7287). Nonetheless, the overall frequency of isolated dental anomalies was slightly higher in Group A than Group B that was statistically significant (P = 0.0213). A positive correlation between dental anomalies among offspring of consanguineous marriages revealed such prevalence may be attributed to increased risk of recessive deleterious gene expression or defective allele carried to offspring.

Challenges with Management of Autoimmune Polyendocrinopathy-Candidiasis-ectodermal dystrophy in Group of Iraqi patients

Background: Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy is a rare disease with heterogenous presentation, its diagnosis and management make a challenge in our medical practice. Aim: To describe the variability of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) presentation and management in a group of pediatric Iraqi patients and define some measures for promoting recognition and adequate management of patients. Patients and Methods: We included 27 patients (24 families) with APECED (median age at diagnosis was 7 years; range 2 years – 12 years) 11 males and 16 Females, their medical records were reviewed and then followed up for a period from 2001 and 2021. The diagnosis of the disease was made by the presence of at least two major clinical features, prospectively Patients were scheduled for followed up visits every 6–12 months in our hospital. Full evaluation including monitoring for the presence of the new disease manifestations and treatment of every component was conducted semiannually. Results: The percentages of females more than the male. More patients have a negative family history and positive consanguinity. Patients with hypocalcemic fits and Addison crisis are the largest percentage of patients (59.3%, 18.5% consequently). The difference in median age and interquartile range between the three main features of disease was compared and were significant, p-value = 0.02. The mortality rate was 11.1% and 57% of patients reported difficulty in compliance with the follow-up program. Conclusion: The disease although it is rare and had very important major and minor autoimmune manifestations that can be life-threatening if it is not well promptly diagnosed and treated. Evidently many measures can be taken in order to improve its diagnosis and management.

Concomitant spontaneous spinal and posterior fossa subdural hematoma in an 11-year-old child with aplastic anemia: a case report and review of literature

PurposeThe current article describes an 11-year-old male who has aplastic anemia with an extremely rare condition, that is, concomitant posterior fossa SDH and spinal SDH.MethodsThis is a case report and review of literature.Case presentationThis case presents an 11-year-old male known to have aplastic anemia complained of neck and back pain, headache, and persistent vomiting for 3 days. He had no history of head or spine trauma at all. His parents are relatives “positive consanguinity,” and his sister suffers from aplastic anemia. Clinical examination revealed severe pallor at the time of presentation, with no neurologic or locomotor deficit and positive Kernig’s sign.ConclusionPatients with aplastic anemia or any bleeding disorder conditions should be investigated thoroughly if symptoms denoted a CNS pathology. Concomitant cranial and spinal SDH rarely occurs, and more studies are advocated to be structured to investigate the specific pathophysiology and etiologies of this condition.

Childhood Autism: Clinical Characteristics, Nutritional Status, and Psychosocial Features

Introduction: Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors and nonverbal interactions onset in the first 3 years of life. Therefore, the present study aimed to study the clinical features, nutritional status, risk factors, and behaviors of children with autism. Methods: Across section study involved a total of 100 subjects 74 (76%) male and 26 (24%) female. The ages of the children were ranging from 3-17 years old. The self-administration questionnaire containing questions on behavior, health problems, nutritional status, and risk factors was also completed. Bodyweight and height were measured to calculate the BMI percentile. Laboratory tests such as blood glucose and HbA1C, vitamin D were included. Clinical and behavioral information is also involved. All samples were analyzed through either mean ±SEM or Chi-square to determine significant differences. Results: The present study shows that the majority of the children have age 7 years old, and autism increased significantly at ages between 6-10 years (P&lt;0.05). In comparison to females, a male has three times more affected by autism (P=0.000). There were many points identified in the study including autism onset started between 1-3 years, blood groups of parents O+ significant resultant in offspring with O+ blood groups, 20% of subjects have positive family history and consanguinity for each. The behavior of autistic children shows that children like playing with electronic IPAD, dislike hearing crying, and less sleeping hours than normal people but they have similar food attitudes and consumption compared to normal counterparts. Impairment in communication was the most common sign of autism and less like hours for play. Obesity was a common nutritional disorder and food behavior has been seen toward some foods. The common health problems reported were epilepsy, respiratory diseases, constipation, and UTIs. Conclusion: The present study revealed that some behaviors, risk factors, health problems, and abnormal levels of calcium, hemoglobin, and vitamin D were determined. Furthermore, increase body weight some behaviors toward certain types of foods have been identified. This study suggested that routine monitoring of children with autism should include assessment of blood groups, dietary habits, as well as anthropometric measurements.

Primary hypertriglyceridemia induced pancreatitis in a cohort of Pakistani children.

Primary hypertriglyceridemia is a rare condition in children. Hypertriglyceridemia induced pancreatitis is most commonly reported in adults, accounting for third most common cause after gallstones and alcohol consumption. The study aims to highlight the frequency of hypertriglyceridemia induced pancreatitis in a cohort of children presenting in a tertiary care hospital. A retrospective review of paediatric patients with pancreatitis was conducted in Shifa International hospital, Islamabad, from 2013 to 2020. All patients under 18 years of age who fulfilled the inclusion criteria were included. Medical records of patients were checked for symptoms, signs, age, growth parameters and laboratory investigations. Patients who had HTG were reviewed in detail for family history of pancreatitis or dyslipidemias. We found a cohort of 6 patients with primary hypertriglyceridemia after excluding secondary causes. Out of these 6 patients, 4 (66.6%) were male and 2 (33.3%) were female. Minimum age of our patient was 2 months and maximum was 17 years with a mean age of 6.5 years. Two patients presented less than one year of age. Mean triglyceride levels was 1,599+523mg/dL. Four patients (66.6%) had acute pancreatitis, one each (16.6%) had recurrent and chronic pancreatitis. Family history was positive for hyperlipidaemia in two patients who had positive consanguinity. Patients with positive family history were symptomatic at earlier age. This is the first study to highlight primary hypertriglyceridemia presenting as pancreatitis in paediatric population from Pakistan. All patients had triglycerides level of greater than 1000mg/dL.

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Epidermolysis bullosa (EB) is a rare heterogeneous genetic mechanobullous skin disorder that is characterized by increased skin fragility leading to blistering following minor trauma. EB may be inherited as an autosomal dominant or an autosomal recessive disorder and can be classified into dystrophic EB (DEB), junctional EB (JEB), and EB simplex (EBS). A total of 28 Saudi patients with EB were included in this observational, retrospective chart-review study. A consecutive non-probability sampling technique was used to approach all affected patients. Molecular analysis was done to test the patients’ genomic DNA using a custom-designed AmpliSeq panel of suspected genes. All disease-causing variants were checked against available public databases. Twelve patients (42.9%) were found to have DEB, 6 patients (21.4%) with JEB, and 10 patients (35.7%) with EBS. The molecular genetic results revealed detections of 24 various homozygous genetic variations in the genes associated with EB, of which 14 were novel mutations. The most frequent variations were detected in COL7A1 in 12 cases (42.9%), followed by LAMB3 in 5 cases (17.9%), TGM5 in 4 cases (14.3%), and other genes. Furthermore, the majority (87.5%) of EB cases were confirmed to have homozygous mutations, and few were documented with positive consanguinity history. Only 3 cases (12.5%) were found to be autosomal dominant displaying heterozygous mutations. This is the first study to establish the EB genetic profile in Saudi Arabia where DEB is the most frequent type. A total of 14 novel mutations were identified that had not been previously reported. Consanguineous marriage is clearly recognized in the Saudi population; therefore, we propose a nationwide EB program that would help extend the spectrum of the genetic profile and help in the diagnosis and better understanding of this disease.

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1.

Background Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder that increases the risk of developing benign and malignant tumors. Several associated endocrine diseases in NF-1 patients have been explained in the literature. Thus, this study aims to assess the endocrine manifestations as there no previous local data have discussed this association. Methods A retrospective cross-sectional study was conducted at KAMC and KASCH, Riyadh, Saudi Arabia by including all patients genetically confirmed with NF1 from 2004 until 2019 using a consecutive non-probability sampling technique. The included data were demographics, consanguinity, genetic variant mutations as well as associated endocrine diseases. Results The prevalence of patients with associated endocrine diseases was estimated to be 19.4%. Short stature showed the highest frequency of associated endocrine diseases followed by subclinical hypothyroidism. Positive consanguinity, sporadic mutation, and pathogenic variant showed high frequencies. Conclusion The coexistence of endocrine diseases was found in NF-1 patients. Therefore, screening for endocrine abnormality in patients with NF-1 by comprehensive history and physical exam as well as investigations to minimize complications and the late presentation should be considered; however, further studies are necessary to address the need.

Congenital anomalies in neonates in Fayoum Governorate, Egypt.

The worldwide incidence of congenital anomalies (CAs) is estimated at 3-7%, but actual numbers vary widely among countries. Birth defects are the most common causes of infantile mortality, accounting for ~25% of all neonatal deaths. To determine the prevalence of congenital anomalies in neonates in Fayoum Governorate; to classify malformations; and to clarify the association between congenital anomalies and possible risk factors. A cross-sectional study was conducted on 1000 infants in the neonatal intensive care unit and outpatient clinics of Fayoum University Hospital and Fayoum General Hospital during August 2017 to April 2018. Detailed history, clinical examination and relevant investigations were performed. The prevalence of CAs was 7.4%. Major malformations accounted for 78.4% and minor malformations 21.6%. The most common CAs involved the cardiovascular system (32.4%), followed by musculoskeletal anomalies (18.9%), chromosomal anomalies (10.8%), anomalies of the central nervous system (9.5%), gastrointestinal tract (6.8%), genital system (5.4%), eyes, head and neck (5.4%), respiratory system (4.1%), multisystems (2 or more) (4.1%), and renal and urinary systems (2.7%). 82.4% of cases were from rural areas, 62.1% were male, 36.5% were female and 1.4% were ambiguous. 85.1% of neonates with malformations were full term. Cardiovascular, musculoskeletal and chromosomal anomalies were the most common CAs in our study. Positive consanguinity, poor attendance at antenatal clinics, rural residence and multiparty were the most common risk factors associated with CAs.

Mitochondrial Complex I Deficiency among Egyptian Pediatric Patients with Steroid-Resistant Nephrotic Syndrome.

Results Positive consanguinity was a remarkable finding in 44 patients among the SRNS group (73%), compared with 33 patients among the SSNS group (55%). Complex I activity was significantly lower in the SRNS group (0.2657 ± 0.1831 nmol/ml/min), than in the SSNS group (0.4773 ± 0.1290 nmol/ml/min) (p < 0.001). There was a significant positive correlation between complex I activity and the heaviness of proteinuria among the SRNS group (r 0.344, p < 0.001). There were statistically significant differences in serum C3 and C4 levels between both groups (p < 0.001, 0.053, respectively). Conclusion Mitochondrial complex I deficiency in patients who have a nephrotic syndrome complaint may play a role in their responsiveness to steroid therapy and the development of SRNS and even the prognosis of their illness.

Predominance of fetal malformations among pregnant women: A multi-centric observational study

Objective: To observe the predominance of fetal anomalies in pregnant women in a multi-centric setting. Methods: This prospective observational study included 20225 pregnant women who came for antenatal care in University Hospital and fetal medicine units from 2016 to 2019. Fetal anatomical scanning was done for all participants. Results: One hundred eighty-three cases had fetal congenital anomalies, yielding a prevalence of around 0.9%. Third of cases had positive consanguinity, this increased in cases of skeletal and thoracic anomalies. The presence of past history of anomalies was evident in 8.2% mostly with skeletal and heart anomalies. History of drug intake was only verified in 1.6% of cases. Sixty-three women out of 183 (34.4%) were diagnosed to have anomalies in fetal nervous system. Conclusion: Prenatal diagnosis are recommended for early detection of congenital anomalies and counselling.

Xeroderma Pigmentosum with Malignant Cutaneous Tumors in Two Siblings

Abstract: Xeroderma pigmentosum is an autosomal recessive genetic disease that accompanied by abnormalities in deletion and repair of DNA due to enzymatic damage by ultraviolet radiation. It is described by photo hypersensitivity of areas exposed to sun radiation, changes in the skin pigmentation, cutaneous premature aging and increased risk of developing cutaneous and ocular malignant tumors early in life. Most common types of malignant cutaneous tumors detected are basal cell and squamous cell carcinoma and less commonly malignant melanoma. It is very frequent in certain areas of the world, most markedly Middle East, like Egypt and North Africa with positive consanguinity. In patients with Xeroderma pigmentosum prior to the age of 20 years, the risk of developing skin cancer is several thousand times greater. In patients with XP for non-melanoma skin cancers, the median age of onset is eight years relative to the non-XP population with a median age of onset of sixty years. This research study presents two siblings; 18-years-old sister and 16-years-old brother; from relative parents that had xeroderma pigmentosum with development of different malignant skin tumors. Treatment protocol was surgical excision of the malignant tumor with adequate safety margin and removal of enlarged lymph nodes. Reconstruction options were directed mainly to flap surgery. Postoperative follow up reveled no recurrence.

Ab Interno Goniotomy Combined with Ab Externo Trabeculotomy in Advanced Primary Congenital Glaucoma Patients: 2-Year Follow-Up.

IntroductionPrimary congenital glaucoma (PCG) is a challenging disease that needs to be surgically managed with more innovative methods. Conventional incisional surgery, such as goniotomy and trabeculotomy, has a primary high success rate, but does not seem to be a very effective treatment in advanced stages.DesignA prospective clinical case study.PurposeTo qualify the outcome, in terms of success rate, of goniotomy combined with trabeculotomy as a surgical option to treat eyes affected by PCG with a corneal diameter larger than 14 mm.Patients and MethodsThis study included 50 eyes of 50 patients diagnosed with PCG with corneal diameter larger than 14 mm who underwent ab interno goniotomy combined with ab externo trabeculotomy. Intraocular pressure (IOP) was measured preoperatively and 24 months postoperatively. A statistical analysis was performed to detect correlations between the success rate and corneal diameter, preoperative IOP, age of onset, axial length, and consanguinity. The main outcome was reduction in IOP; secondary outcomes were factors affecting the success rate, complications, and the need for additional surgical intervention to control IOP.ResultsThe mean age of the patients was 18.86±9.94 months. Males made up 52% of cases and females 48% of cases. Positive consanguinity was present in 38% of cases. Axial length ranged between 20 and 22 mm, with a mean of 20.98±0.8 mm. Mean preoperative IOP was 29.56±3.36 mmHg, which decreased postoperatively to 12.6±2.5, 14.1±3.2, 16.8±5.5, 14.4±2.3, 14.3±1.6, 14.3±1.6, 14.3±1.6, 14.3±1.7, and 14.3±1.7 mmHg at 1, 3, 6, 9, 12, 15, 18, 21, and 24 months respectively (p˂0.001). Use of medical treatment was decreased from 2.7±0.4 preoperatively to 1.4±0.7 postoperatively (p˂0.001). Hyphema was the only complication that appeared, occurring in 47% of cases. The success rate was 94%. Complete success (IOP <21 mmHg without treatment) was achieved in 70% of cases, 24% were considered a qualified success (IOP <21 mmHg with treatment), while failure was documented in 6% of cases (IOP >21 mmHg with treatment). The success rate was significantly related to preoperative IOP, corneal diameter, axial length, consanguinity, and age of onset (p˂0.001). All cases were followed for 24 months.ConclusionAb interno goniotomy combined with ab externo trabeculotomy improves the success rate of buphthalmos surgery. A significant correlation was detected between success rate and preoperative IOP, corneal diameter, axial length, consanguinity, and age of onset.

Congenital factor XIII deficiency in Iraq: An 8-year single-center study

BACKGROUND: Congenital FXIII deficiency is a rare genetic bleeding disorder that is inherited in an autosomal recessive pattern with a frequency of 1/2 million individuals in the human population. Deficiency of FXIII is associated with significant bleeding disorders.AIMS: This study aimed to evaluate the demographic parameters, clinical presentations, and outcome of patients who were diagnosed with congenital factor XIII deficiency.SUBJECTS AND METHODS: A retrospective descriptive study of patients who were diagnosed with congenital FXIII deficiency over a period from August 2008 to August 2016 was conducted. The study included patients who were diagnosed by having bleeding tendency and normal standard coagulation tests (normal platelet count, normal prothrombin time; normal partial thromboplastin time, and normal bleeding time) and the diagnosis was confirmed by clot solubility test in 5M urea. The diagnosis was made in the Hemophilia Ward, Children Welfare Teaching Hospital, Medical City, Baghdad.RESULTS: There were 111 cases of other coagulation factors' deficiency (rare bleeding disorders) registered in the center, congenital FXIII deficiency represented 24 (22%) of them. Males represented 14 (58.3%) and females 10 (41.7%) of patients. Most of the patients (41.7%) had their symptoms during the 1st year of life. Positive consanguinity was found in 100% of patients and 14 (58.3%) patients had a family history of FXIII deficiency. Umbilical cord bleeding and gum bleeding were present in 37.5% and 20.8%, respectively, and they were the most common first presenting symptoms of FXIII-deficient patients, while muscle hematoma (28.5%) and joint bleeding (24.7%) were the most common presenting symptoms in follow-up visits. The majority of the patients (79.1%) did not develop complications, the complications were developed in 3 (12.4%) patients, which were intracranial bleeding in 2 (8.3%) patients and liver hematoma in 1 (4.1%) patient. One patient (4.1%) developed recurrent abortion and one patient (4.1%) developed hepatitis C. No death was reported during the study period.CONCLUSIONS: FXIII deficiency founded to be a more common rare bleeding disorder among Iraqi patients, with a high rate of consanguineous marriage. Umbilical cord bleeding and gum bleeding were the most common presenting symptoms for FXIII deficiency. There was a considerable delay in the diagnosis of FXIII deficiency in the majority of patients.

Clinical and laboratory characteristics of viral encephalitis in children in Menoufia governorate, Egypt

ObjectiveThis study was designed to highlight clinicoepidemiological profile investigation findings of acute viral encephalitis in children.BackgroundOwing to the high morbidity and mortality associated with viral encephalitis, it is important to establish a diagnosis and initiate therapy as soon as possible.Patients and methodsThis study was conducted on 50 cases that met the diagnostic criteria of encephalitis. Most of these patients were admitted at either General Department or Pediatric ICUs of Menoufia University Hospital and Shebin El-Kom Fever Hospital. All were subjected to complete history and examination, cerebrospinal fluid examination, electroencephalogram, computed tomography brain, and MRI brain.ResultsOf the 50 patients included in the study, there were 30 (60%) male 20 (40%) female patients, with mean ± SD age of 5.56 ± 4.90 (0.42–15.0) years. A total of 35 (70%) patients were from the rural area, 25 (50%) patients had low socioeconomic status, and 20% had positive consanguinity. Delayed development was observed only in 14% of patients. Pus cells ranged from 5 to 500 cell in 74% of patients, with mean lymphocyte percentage of 53.33 ± 35.98. Protein was elevated more than or equal to 50 in 82% of patients, and 20% of the patients showed background slowing and focal sharp wave in temporal lobe by electroencephalogram. Brain edema was detected in 15% patients. MRI abnormalities were detected in 24 patients.ConclusionClinical data, laboratory results, and neuroimaging findings support the diagnosis of encephalitis.