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Abstract Background Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), type 2 (infantile form, with acute early neurologic manifestation), and type 3 (subacute/chronic neuropathic form). The rarity of the disease and its overlapping symptoms with other diseases increase the delay in diagnosis. The Egyptian cohort of patients with GD is specifically different regarding the prevalence of type 3 as well as the severity and progression of the disease. The unavailability of precise diagnostic tests and lack of awareness among clinicians are the current challenges associated with diagnosing and managing GD in Egypt. Method An expert panel meeting was convened with 19 experts from Egypt to address the current unmet challenges in the diagnosis and management of GD from the region and to develop country-specific diagnostic algorithms based on the existing literature for pediatric and adult groups. In addition, management strategies and preventive measures were also discussed. Result The algorithms presented in this review can be implemented in clinical practice for the timely diagnosis of patients with GD in Egypt. Early diagnosis is crucial in selecting the best treatment for patients with GD, and evidence suggests that early initiation of therapy can result in better outcomes. Conclusion The evidence-based expert opinion presented in this review will help clinicians in the early initial diagnosis of GD in Egypt, leading to appropriate management of the disease.

Glioma is the most prevalent primary malignant brain tumor. Segmentation of glioma regions using magnetic resonance imaging (MRI) is essential for treatment planning. However, segmentation of glioma regions is usually based on four MRI modalities, which are T1, T2, T1Gd, and FLAIR. Acquiring these four modalities will increase patients' time inside the scanner and drive up the segmentation process's processing time. Nevertheless, not all these modalities are acquired in some cases due to the limited available time on the MRI scanner or uncooperative patients. Therefore, U-Net-based fully convolutional neural networks were employed for automated segmentation to answer the urgent question: does a smaller number of MRI modalities limit the segmentation accuracy? The proposed approach was trained, validated, and tested on 100 high-grade glioma (HGG) cases twice, once with all MRI sequences and second with only FLAIR and T1Gd. The results on the test set showed that the baseline U-Net model gave a mean Dice score of 0.9166 and 0.9190 on all MRI sequences using FLAIR and T1Gd, respectively. To check for possible performance improvement of the U-Net on FLAIR and T1Gd modalities, an ensemble of pre-trained VGG16, VGG19, and ResNet50 as modified U-Net encoders were employed for automated glioma segmentation based on T1Gd and FLAIR modalities only and compared with the baseline U-Net. The proposed models were trained, validated, and tested on 259 high-grade gliomas (HGG) cases. The results showed that the proposed baseline U-Net model and the ensemble of pre-trained VGG16, VGG19, or ResNet50 as modified U-Net encoders have a mean Dice score of 0.9395, 0.9360, 0.9359, and 0.9356, respectively. The results were also compared to other studies based on four MRI modalities. The work indicates that FLAIR and T1Gd are the most prominent contributors to the segmentation process. The proposed baseline U-Net is robust enough for segmenting HGG sub-tumoral structures and competitive with other state-of-the-art works.

This study was represented in identifying the most important social problems facing the students of the internal departments and the extent of their spread, whether they are organizationally among the supervisors and those in charge of managing the internal department and among the students in terms of their commitment to the laws and regulations imposed on them, or behavioral problems such as behavioral deviations, theft and others, or on the one hand. Psychological problems resulting from the pressures of daily life and the difficulty of adapting to the internal department environment, as well as the researcher feeding the subject of her research through some theories that serve as a theoretical basis guiding and directing the research and researcher to scientific interpretation, and through our research it was found that there is a lack of some services in The department’s environment, and this deficiency has greatly affected the adjustment within the department, in addition to the presence of some behavioral deviations among the students of the internal departments, which in turn led to a lack of trust among students, as well as some economic problems, most notably the high food prices.

Abstract Background Elevated potassium level is a common and reversible peri-arrest condition. Diagnosis and management of hyperkalemia in a short time is critical, where electrocardiogram (ECG) alterations might be helpful. We aimed to investigate the role of clinical features and ECGs in early diagnosing and treating hyperkalemia. Methods Prospectively, adult patients who presented to the emergency department (ED) from July 2019 to March 2020 with hyperkalemia (serum potassium ≥5.5mmol/L) were included. History was obtained, and laboratory investigations and ECGs were performed at the presentation and before initiating hyperkalemia therapy. Hyperkalemia severity was divided into mild (5.5–5.9mmol/L), moderate (6.0–6.4mmol/L), and severe (≥6.5mmol/L). A cardiologist and emergency physician blinded to laboratory values, study design, and patients’ diagnoses interpreted ECGs and presenting symptoms independently to predict hyperkalemia. Results Sixty-seven hyperkalemic patients with a mean (±SD) serum potassium level of 6.5±0.7mmol/L were included in this study. The mean age was 63.9±15.1, and 58.2% were females. Hyperkalemia was mild in 10.4%, moderate in 40.3%, and severe in 49.3%. Almost two thirds of patients (71.6%) had hypertension, 67.2% diabetes, and 64.2% chronic kidney disease. About one-quarter of patients (22.4%) were asymptomatic, while fatigue (46.3%), dyspnea (28.4%), and nausea/vomiting (20.9%) were the most common presenting symptoms. Normal ECGs were observed in 25.4% of patients, while alterations in 74.6%. Atrial fibrillation (13.4%), peaked T wave (11.9%), widened QRS (11.9%), prolonged PR interval (10.5%), and flattening P wave (10.5%) were the most common. Peaked T wave was significantly more common in severe hyperkalemia (87.5%) than in mild and moderate hyperkalemia (12.5%, 0.0%, respectively) (p=0.041). The physicians’ sensitivities for predicting hyperkalemia were 35.8% and 28.4%, improved to 51.5% and 42.4%, respectively, when limiting the analyses to severe hyperkalemia. The mean (±SD) time to initial hyperkalemia treatment was 63.8±31.5 min. Potassium levels were positively correlated with PR interval (r=0.283, p=0.038), QRS duration (r=0.361, p=0.003), peaked T wave (r=0.242, p=0.041), and serum levels of creatinine (r=0.347, p=0.004), BUN (r=0.312, p=0.008), and CK (r=0.373, p=0.039). Conclusions The physicians’ abilities to predict hyperkalemia based on ECG and symptoms were poor. ECG could not be solely relied on, and serum potassium tests should be conducted for accurate diagnosis.

The research aims to identify the causes of displacement from the cities of Ramadi and Mosul and to identify the similarities and differences in the social, economic, educational and other problems faced by the returnees to the cities of Ramadi and Mosul. The researchers used the methods of social survey and comparative approach. Part of the research community, namely, the interview, the observation and the questionnaire, and was based on the "non-probabilistic" sample of 200 displaced persons returning to Mosul and 200 displaced persons returning to Ramadi. The researchers found several results, the most important of which is that there is a similarity between the displaced in the reasons of their displacement between the two cities, in order to feel safe and with many problems, including: the inability to adapt, the cost of rent allowances, begging, homelessness, alcohol and drug addiction, Family relations, the spread of epidemics, diseases, etc., and distrust of the central government in achieving security. However, there have been many differences in the problems experienced by the returnees, the difference of sectarian, demographic, tribal and other nature between the two cities.

Abstract Background Coronary artery disease (CAD), a leading cause of mortality, affects patient health-related quality of life (HRQoL). Elective percutaneous coronary interventions (ePCIs) are usually performed to improve HRQoL of CAD patients. The aim of this study was to design models using admission data to predict the outcomes of the ePCI treatments on the patients’ HRQoL. Methods This prospective cohort study was conducted with CAD patients who underwent ePCIs at the King Abdullah University Hospital in Jordan from January 2014 through May 2015. Six months after their ePCI procedures, the participants completed the improved MacNew (QLMI-2) questionnaire, which was used for evaluating three domains (physical, emotional and social) of HRQoL. Multivariate linear regression was used to design models to predict the three domains of HRQoL from echocardiographic findings and clinical data that are routinely measured on admission. Results The study included 239 patients who underwent ePCIs and responded to the QLMI-2 questionnaire. The mean age (± standard deviation) of the participants was 55.74 ± 11.84 years, 54.58 ± 11.37 years for males (n = 174) and 59.11 ± 12.49 years for females (n = 65). The average scores for physical, emotional and social HRQoL were 4.38 ± 1.27, 4.4 ± 1.11, and 4.37 ± 1.32, respectively. Out of the 42 factors inputted to the models to predict HRQoL scores, 10, 9, and 9 factors were found to be significant determinants for physical, emotional and social domains, respectively, with adjusted coefficients of determination of 0.630, 0.604 and 0.534, respectively. Basophil levels on admission showed a significant positive correlation with the three domains of HRQoL, while aortic root diameter showed a negative correlation. Scores for the three domains were significantly lower in women than in men. Hypertensive and diabetic patients had significantly lower HRQoL scores than patients without hypertension and diabetes. Conclusion The prediction of HRQoL scores 6 months after an ePCI is possible based on data acquired on admission. The models developed here can be used as decision-making tools to guide physicians in identifying the efficacy of ePCIs for individual patients, hence decreasing the rate of inappropriate ePCIs and reducing costs and complications.

We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long philtrum, small low set ears, high arched palate, excess hair on the cheeks, short neck and excess hair over extremities and back. The patient had patent ductus arteriosus ligation, and mild pulmonary hypertension. Our patient has an affected mother which is consistent with autosomal dominant inheritance. Keywords: Cantu syndrome, Hypertrichosis, Coarse features

Background: Peroxisome Proliferator-Activated Receptor gamma (PPARγ) is a ligand-dependent transcription factor involved in inflammatory process. PPAR-γ gene was mentioned as having a modulating role in the pathological status of sepsis.The present study aimed to make a correlation between The Pro12Ala polymorphism in PPAR-γ gene and occurrence of neonatal sepsis and its severity among a sample of Egyptian neonates suffering sepsis. Subjects and methods: This case-control study included 30 neonates (11 females and19 males) newly admitted with neonatal sepsis at the intensive care unit (NICU) (mean age 10.3 days ± 6.23). The control group included 50 age and sex matched neonates (23 females and 27 males) (mean age 10.20 days ± 5.36 days). All the neonates (preterm and full term) included were with clinical signs and laboratory data consistent with neonatal sepsis. Genotyping for PPARγ gene region harboring the Pro12Ala variant locus were carried out using Tetra ARMS technique. Results: About 56.7% of the patients group was homozygote (GG) for polymorphic locus (coding for Alanine/Alanine) while 30% was heterozygote for polymorphic locus (CG) (coding for Proline/Alanine) and up to 13.3% was homozygote for the polymorphic locus (CC) (coding for Proline/Proline). Compared to the control group where homozygotes for CC were the most prevalent (90%) and the CG were 10% with absence of GG genotypes. There was a strong statistical significant difference between patients and the normal control group as regards prevalence of PPAR-γ gene polymorphism in occurrence of neonatal sepsis and its severity. Also, there were strong relation between genotype GG and low birth weight, neonatal fever, prematurity and depressed neonatal reflexes. Conclusion: PPAR-γ gene has been suggested to be a candidate gene for neonatal sepsis. Therefore, Pro12Ala polymorphism might be useful in predicting the risk factor of neonatal sepsis and its severity. Keywords: Sepsis, PPAR-γ gene, Polymorphism, Neonates

Background: Recent advances in genetic technology have had a significant impact on the practice of clinical genetics and the diagnosis of genetic syndromes associated with cardiac malformations. Aim: The present study was aimed to determine whether biomarkers of the folic acid pathway, including homocysteine and methionine metabolism are altered among non pregnant women who have had a previous pregnancy affected by congenital heart defects. Subjects and methods: The study was conducted on 50 women attending the Medical Genetics center and the Pediatric Cardiology Clinic, Faculty of Medicine, Ain Shams University for follow up. Mothers were subdivided into: Group 1 (Cases): 25 mothers with a history of congenital heart defects in previous children. Group 2 (Controls): 25 mothers and their children didn’t have any birth defects including congenital heart defects. In both groups women will be excluded: If they were pregnant or taking folate antagonist medications (antiepileptic drugs) or vitamin supplementations at the time of the study. Measurement of plasma concentration of: Vitamin B-12, folic acid, Homocysteine, Methionine, S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH), by using Radio immunoassay kit was done. Results: There is a significant difference between cases and controls as regards history of early neonatal deaths (28%) in cases versus (4%) in controls (P

We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA) which are consistent with MOPD II. Keywords: Microcephalic osteodysplastic primordial dwarfism type I, Intrauterine growth retardation, Dilatation of internal carotid artery, Severe anemia, Skeletal anomalies, Subcutaneous fat, Superficial veins on skin, Aneurysm of internal carotid artery

We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect. The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot’s spots most probably due to vitamin A deficiency. MRI brain revealed agenesis of the corpus callosum.

We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.

We report a 6 year old child, second in order of birth of non consanguineous Egyptian parents with typical characteristics of Christ-Siemens-Touraine syndrome. The patient had sparse light hair over the scalp, scanty eyebrows and eyelashes, a high arched cleft palate, decayed oligodontic teeth, hyperpigmentation all over the body more marked in cheeks, perioral area, chin, neck, axillae and back of both knees, fragile dry skin, hyperextensibility of the metacarpophalangeal joints, dysplastic nails and absent nipples. Our patient had also gallstones which were not reported previously and mild mental retardation. His mother had mild teeth abnormalities.

We report a 4.5 year old female child with the classical triad of Meier–Gorlin syndrome (microtia, absent patella and short stature) with normal mentality. She had small triangular face, long peaked nose, high nasal bridge, bilateral low set very small ears (microtia), retromicrognathia, high arched palate, maxillary hypoplasia, decayed teeth, and bilateral partial syndactyly between 2nd and 3rd toes. Our patient had a gastroesophageal reflux, renal stones, hydronephrosis and hypoplastic labia majora and minora with clitromegaly.

Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. Here we describe an Egyptian child with generalized lamellar ichthyosis and limb reduction defect. Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement.

Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since the introduction of Ceredase in 1991, enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life dependency on biweekly IV therapy. It was more than a decade later when the substrate reduction therapy – an oral treatment – was approved for Gaucher disease. Future therapeutic modalities will include pharmacological chaperon and possibly gene therapy. The aim of this review is to high light the current and future treatment options for patients with Gaucher disease and to compare their effects and side effects.

We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis.

Targeting the patient’s needs and preferences has become an important contributor for improving care delivery, enhancing patient satisfaction, and achieving better clinical outcomes. This study aimed to examine the impact of applying quality management practices on patient centeredness within the context of health care accreditation and to explore the differences in the views of various health care workers regarding the attributes affecting patient-centered care. Our study followed a cross-sectional survey design wherein 4 Jordanian public hospitals were investigated several months after accreditation was obtained. Total 829 clinical/nonclinical hospital staff members consented for study participation. This sample was divided into 3 main occupational categories to represent the administrators, nurses, as well as doctors and other health professionals. Using a structural equation modeling, our results indicated that the predictors of patient-centered care for both administrators and those providing clinical care were participation in the accreditation process, leadership commitment to quality improvement, and measurement of quality improvement outcomes. In particular, perceiving the importance of the hospital’s engagement in the accreditation process was shown to be relevant to the administrators (gamma = 0.96), nurses (gamma = 0.80), as well as to doctors and other health professionals (gamma = 0.71). However, the administrator staff (gamma = 0.31) was less likely to perceive the influence of measuring the quality improvement outcomes on the delivery of patient-centered care than nurses (gamma = 0.59) as well as doctors and other health care providers (gamma = 0.55). From the nurses’ perspectives only, patient centeredness was found to be driven by building an institutional framework that supports quality assurance in hospital settings (gamma = 0.36). In conclusion, accreditation is a leading factor for delivering patient-centered care and should be on a hospital’s agenda as a strategy for continuous quality improvement.

We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye. Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with BPES.

Antihistamines are a group of medications which can inhibit various histaminic actions at one of two histamine receptors (H1 or H2). H1 receptor antagonists are used for the relief of allergic dermatological and nondermatological conditions. We will review classes of antihistamines (H1 antagonists) and the relationship between specific antihistamines and specific birth defects. Although many findings provide reassurance about the relative safety of many antihistamine drugs and that any malformation reported is most probably caused by chance, studies are still required to assure fetal safety. As pruritus is sometimes troublesome for pregnant women topical medications like emollients should be tried first in the first trimester of pregnancy. Also pregnant women should be advised to consult their health care provider before taking any medication.

We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

We report a 2.5 year old male, first in order of birth of first cousin consanguineous parents with the typical features of Berardinelli–Seip congenital lipodystrophy 2 (BSCL2) since birth with moderate mental retardation. He had generalized lipodystrophy with various dermatologic and systemic manifestations. The patient looked older than his age with the loss of buccal pad of fat, hypertrichosis mainly on the back and lower limbs, thick scalp hair, mild prognathism, large hands and feet with prominent joints and muscular hypertrophy. Acanthosis nigricans was evident over the neck and both axillae inspite of the normal level of sugar and insulin. The abdomen was markedly prominent with mild hepatosplenomegaly and enlarged external genitals. Echo-cardiography demonstrated cardiac hypertrophy. Triglyceride level was high with reduced high density lipoproteins (HDL).

Background: Inborn errors of metabolism (IEM) have a high morbidity and mortality in neonates. Unfortunately, there is no nationwide neonatal screen in Egypt, so several cases may be missed. Objective: The aim of this work was to detect the prevalence of IEM among neonates with suspected IEM, and to diagnose IEM as early as possible in order to minimize morbidity and mortality in high risk neonates. Subjects and methods: This prospective study included 40 neonates admitted to the Elmahalla General Governmental Hospital Neonatal Intensive Care Unit (NICU) with sepsis like symptoms (lethargy, hypoactivity, poor suckling, and poor crying), convulsions, persistent metabolic acidosis, persistent vomiting, or previous sib death of unidentified cause (neonates with suspected IEM). All included patients were subjected to detailed full history, through clinical examination, laboratory investigations, and metabolic screening by tandem mass spectrometry (MS/MS). Other investigations for IEM including lactate, ammonia, and galactose 1 phosphate levels in the blood, as well as organic acids in urine were done according to each case. Results: 13 patients (32.5%) were diagnosed as having IEM, 7 of them (53.8%) had urea cycle defect, 2 (15.4%) had maple syrup urine disease, while methylmalonic acidemia, fatty acid oxidation defect, mitochondrial disease, and galactosemia were diagnosed in one patient each (7.7%). Out of these patients, 12 patients (30%) were discharged from NICU after therapy, and one patient (2.5%) died (the one who had mitochondrial disease). Two patients were diagnosed as diseases other than IEM, one had hyperinsulinism and another one had congenital myopathy, while 2 patients were proved to be normal. Five patients (12.5%) were suspected to have IEM (tyrosinemia, mitochondrial disease, organic acidemia) 4 of them died before final diagnosis, and one transferred to another NICU. There was a significant difference between diagnosed and undiagnosed patients as regards history of sibling death (p = 0.012), plasma ammonia level (p = 0.002), and discharge from NICU (p = 0.000). Conclusion: IEM represent a high percent (32.5%) of neonates who had sepsis like symptoms, and when diagnosed, patients showed marked improvement after therapy. IEM should be considered in differential diagnosis of the sick neonates, and investigations, and management should be started rapidly to decrease morbidity, and mortality till nationwide screen for IEM is applied in Egypt.

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8(q23.3-q24.1).

We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI) including midline pseudo cleft upper lip, sublingual nodule, molar tooth sign by MRI brain, bilateral mesoaxial polydactyly (hexadactyly), and developmental delay. The patient had self mutilations which was not reported before in OFDS VI except once.

We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS), (microtia, absent patella and short stature). She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.

Background: Classical autism belongs to a group of heterogeneous neurobehavioral disorders known as autism spectrum disorders (ASDs) characterized by abnormalities in social interaction, impaired communication, and repetitive stereotypic behaviors. Overall, there is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. This study aimed at identification of the C677T polymorphic genotypes of MTHFR gene among the Egyptian children with autism and to correlate them with different phenotypes. Subjects and methods: This case-control study included 20 children with autism (4.57 ± 1.36 years) (13 males and 7 females) and a normal control group. Assessments by DSM-IV-TR criteria, Stanford-Binet intelligence scale and childhood autism rating scale (CARS) were done. Assay for MTHFR gene mutation C677T was performed on amplified DNA by PCR and subsequent reverse hybridization to immobilized allele-specific biotinylated oligonucleotides probes. Results: The relation between low birth weight and occurrence of autism is highly significant (P 0.05). Conclusion: Although the 677CT variant alleles significantly increased in patients with autism, it is unlikely that this association alone is sufficient to produce the complex array of symptoms associated with autism. Therefore, a search for additional genomic, metabolic, epigenetic and environmental risk factors should be undertaken.

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophies affecting approximately 1:3500 male live births. Deletion of the dystrophin gene accounts for approximately 65% of mutations, duplications occur in 6–10% while the remaining 20–30% are point mutations, small deletion/insertions, or splicing mutations. Aim: To study non-deletion mutations in a sample of Egyptian patients with DMD as most previous studies focused on deletion mutations. Patients and methods: The study included 25 patients with DMD from 18 different families from the genetics clinic, Children’s Hospital, Ain Shams University. Diagnosis was made based on typical clinical findings, high CPK and EMG result. Molecular analysis included Polymerase Chain Reaction (PCR) followed by multiplex ligation-dependent probe amplification (MLPA) to those patients with no deletion by PCR. Direct sequencing of the whole dystrophin gene was done to those patients who had no deletion or duplication by the previous 2 methods. Results: Non-deletion mutation included duplications (5 families (27.8%)) which are higher than previously reported and point mutation (c.583C>T) in only one family. Deletion mutations were found in 9 families (50%) and no mutation found in 3 families (16.7%). Interestingly, 60% of the duplications were located in the distal region of the dystrophin gene. A frame shift mutation was identified in most patients (93%) except one with duplication of exons 50–51 who had an unexpected severe disease with an early age of onset. Also, an intragenic deletion involving the 5′ end of the dystrophin gene (deletion of muscle protomor and exon 1) was found in another patient with severe disease without cardiac involvement. Conclusion: The relative higher frequency of duplication mutations in Egyptian patients with DMD may indicate that MLPA and not PCR should be preferred for molecular testing of Egyptian patients with DMD.

We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI) including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula. He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain. He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis. This patient may have a transitional type between II and VI, a variant of type VI or a new type.

We report a fifteen month old Egyptian male child, the third in order of birth of healthy non consanguineous parents, who has normal mentality, normal upper limbs and left lower limb. The right lower limb has short femur, and tibia with anterior bowing, and an overlying skin dimple. The right foot has also oligosyndactyly (three toes), and the foot is in vulgus position. There is limited abduction at the hip joint, full flexion and extension at the knee, limited dorsiflexion and plantar flexion at the ankle joint. The X-ray of the lower limb and pelvis shows proximal focal femoral deficiency, absent right fibula with shortening of the right tibia and anterior bowing of its distal third. The acetabulum is shallow. He has a family history of congenital cyanotic heart disease. Our patient represents most probably the first case of femur fibula ulna syndrome (FFU) in Egypt with unilateral right leg affection. We suggest that the condition in our patient may be due to a rare autosomal dominant mutation with possible gonadal mosaicism and with variable expression in the family, as limb anomaly in one child and cyanotic congenital heart disease in another child.

Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs. Case report: A 26 month old male child, the product of healthy nonconsanguineous parents has many typical features of Miller syndrome. He has cleft lip and palate, malar hypoplasia, left crumpled cup shaped ear, and prominent nose together with the absence of the fifth ray in feet (postaxial) and fixation of interphalangeal joints of both thumbs (preaxial). However the limb affection is bilateral and symmetrical against what is usually reported (bilateral with more affection of one side) and the micrognathia is very mild. Our patient has also bilateral corneal opacities as well as underdeveloped external genitals. Conclusion: There is phenotypic variability in Miller syndrome, and our patient may represent a new distinct subgroup in postaxial acrofacial dysostosis.

For many inherited diseases, the same mutation is not always expressed in all persons who carry it, moreover, when the mutation is expressed, it is not always expressed in the same way. These findings are the basis for the concepts of penetrance and expressivity. Understanding the factors that control penetrance of disease genes will provide insight into the fundamental disease processes and will help in genetic counselling. With the advancement of molecular genetics over the last few years, some of the underlying mechanisms of reduced penetrance have been elucidated. These include, mutation type, allelic variations in gene expression, epigenetic factors, gene-environment interplay, influence of age and sex, allele dosage, oligogenic and digenic inheritance mutations, modifier genes, copy number variations as well as the influence of additional gene variants and the effect of single nucleotide polymorphisms. The aim of this review is to clarify factors affecting gene penetrance as well as some of the underlying molecular mechanisms in some genetic disorders.

We report a family having two male sibs with Simpson–Golabi–Behmel syndrome (SGBS). Both have many typical features of the syndrome. These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, and congenital heart. The patients have bilateral anterior helical ear pits, and characteristic posterior ear lobule creases. The older one has severe mental retardation and died at the age of 13 months with bronchopneumonia, and the younger one is 7 months old with normal mentality. The mother looks broad, stocky, and tall.

Background: MBL2 gene polymorphisms affect serum concentration of mannose-binding lectin and are associated with infectious conditions. Acute respiratory tract infections are among the most prevalent infections in childhood with the highest incidence among children younger than 2 years. This study aimed at correlation between the occurrence of acute respiratory tract infections and the prevalence of MBL2 gene codon (54) and promoter variants among the Egyptian infants in the study. Subjects and methods: This case-control study included 25 neonates (0.21 ± 0.19 months), 25 infants (9.65 ± 8.5 months) with acute respiratory tract infection and normal control group. CBC, CRP and chest X-ray were done. DNA was extracted from peripheral blood. Genotypes of MBL gene codon 54-exon 1(G54D) were identified by PCR-RFLP analysis. MBL2 promoter genotyping was performed by allele-specific polymorphisms at −550 (H/L) and −221(X/Y). Results: Incidence of LX promoter haplotype among the patients was (58%) (p 0.05). Heterozygote codon 54 A/B genotype appeared more in patients (18%) (p 0.05). YA/XA heterozygote promoter genotype was more prevalent among patients group (44%) (p 0.05). Among ICU neonates, LX promoter was the most prevalent among all grades of respiratory distress (39.13%) followed by LY allele (34.78%). In the infants group, LY allele was (52.1%) with equal distribution of LY and HY (23.91% each). Conclusion: Although there is a significantly increased incidence of LX promoter coding for low serum MBL concentrations among the ARTI patients; the YA/XA heterozygote promoter genotype was more prevalent over the homozygote mutant genotype. Also, the heterozygote codon 54 A/B genotype was more prevalent in the group of patients compared to the control. This may be an example of heterosis (heterozygote advantage) which may support the concept of balanced polymorphism.

Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcornea, iris, choroid, and optic nerve coloboma, retinal detachment, and mental retardation. She has also frontal bossing, prominent forehead, thick eyebrows, transverse slanting, hypertelorism, wide palpebral fissures, and nystagmus. The nose is broad, and bulbous with wide nares, and broad nasal tip. She has also low set posteriorly rotated ears, full cheeks, long philtrum, large mouth (macrostomia), gum hypertrophy, decayed teeth, high arched palate, pointed chin, short neck, low posterior hair line, partial left simian crease, and short fingers. MRI brain shows frontal polymicrogyria. Conclusion: This patient represents a mild case of Baraitser–Winter syndrome.

Purpose: ABO blood group glycol-conjugate expression may influence human susceptibility to infection caused by Toxoplasma gondii. This study aimed to assess the relationship between blood group phenotypes as risk factors for toxoplasmosis and to correlate the prevalence of the disease with other risk factors.Materials and Methods: A total of two-hundred serum samples were collected from pregnant women referred for routine rotary examination in Rabak Teaching Hospital, White Nile State, Sudan, and examined for the parasite Toxoplasma gondii using the latex agglutination test.Results: The overall prevalence of toxoplasmosis in pregnant women (IgG positivity for T. gondii in the absence of IgM) was 41% (82/200). A higher prevalence of the infection was detected in women with blood group type AB 5 (55.6%) among the females in the AB blood group and the lowest in those with blood group type B 11 (35.5%). Those with a history of direct contact with cats reported the possibility of eating undercooked meat and soil-related potential risk factors (working in a garden with bare hands, eating unwashed vegetables and fresh fruits, poor handling of food) recorded 70 (82.4%), 59 (65.6%), 58 (77.3%), 73 (55.7%) and 70 (73.7%) of positive cases, respectively. Statistical analysis revealed a significant difference between Toxoplasma gondii infection and these risk factors.Conclusion: The study concluded that the ABO blood group system was not related to the absence or presence of anti-T. gondii antibodies in pregnant women in the study area. Contact with cat feces, raw meat consumption, and farming were identified as possible important risk factors for T. gondii infection within the study area. [ABSTRACT FROM AUTHOR]