Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy.

INTRODUCTION: Hereditary myosin myopathies are muscle disorders caused by mutations in myosin heavy chain genes. The MYH2 gene encodes the fast 2A skeletal muscle isoform, and mutations manifest as joint contractures, muscle weakness, and external ophthalmoplegia. Muscle biopsy shows decreased type 2A fibers, and vacuoles are sometimes present in adults with progressive disease. PRESENTATION OF CASE: This case describes a full term baby boy with hypotonia, dysmorphic features, dysphagia, and aspiration. Whole genome sequencing detected a novel heterozygous variant in the MYH2 gene. Muscle biopsy showed decreased type 2A fibers and vacuoles in myofibers. DISCUSSION: Hypotonia and dysphagia are common in infants with a MYH2 myopathy. However, dysmorphic features and vacuoles on biopsy have not previous been described in infants with MYH2 myopathies. CONCLUSION: This case reports an unusual phenotype of a rare neonatal-onset congenital myopathy associated with a novel heterozygous variant in MYH2.

Neonatal lung ultrasound exam guidelines.

Point-of-care ultrasound (POC-US) is increasingly used especially in emergency and critical-care medicine. It is focused, quick and does not expose patients to ionizing radiation. It encompasses all organ systems and has well-defined indications. Lung ultrasound (LUS) represents one of the most exciting applications in the field of POC-US. It is particularly important to emphasize the role of LUS in neonatology due to the specific pathology inherent in lung immaturity as well as in the particular sensitivity of neonates to repeated radiation exposure. One of the main barriers to the more extensive use of the ultrasound technology is a lack of efficient and attractive training solutions followed by the structured quality-check assurance. In an effort to help bridge this gap, based on the most current literature, we developed creative and intuitive neonatal LUS algorithms. We hope they can serve as a clinical imaging guidelines and a valuable complement to the history and physical exam.

Clinicovirologic analysis of hepatitis C infection in transfusion-dependent beta-thalassemia major children.

Regular blood transfusion puts beta-thalassemia major patients at a higher risk of developing hepatic iron overload and hepatitis C virus (HCV) infection. The association between several transfusion-related factors and an increased risk of developing HCV viremia has been reported. The effect of HCV infection on liver damage in transfusion-dependent thalassemia patients has been poorly described. A sample of 100 Egyptian transfusion-dependent beta-thalassemia major children were studied. Individual patients underwent full history taking, clinical examination and a panel of laboratory tests including HCV ribonucleic acid polymerase chain reaction (HCV-PCR) in blood samples. Liver biopsy was performed for 24 patients. HCV-PCR was positive in 64% of patients. A statistically significant correlation was found between HCV-PCR positivity (HCV viremia) and shorter inter-transfusion interval. There was a significant positive correlation between mean serum ferritin level and mean levels of alanine aminotransferase and aspartase aminotransferase. Histopathologic features of both chronic hepatitis and siderosis were present in 91.7% of biopsy specimens, and fibrosis was present in 41.67%. A higher risk of HCV viremia is noted with a shorter inter-transfusion interval. The reduced role of HCV infection in chronic liver injury in this group of patients may be surpassed by the associated effects of iron overload because of the chronic transfusion. However, the latter finding should be verified in larger studies.

The use of DNA markers for carrier detection and prenatal diagnosis of haemophilia A in Egyptian families.

Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The aim was to investigate the usefulness of two DNA markers in linkage analysis, one intragenic BCL1 affecting restriction site in intron 18, and is detected as restriction fragment length polymorphism (RFLP), and one extragenic variable number of tandem repeat (VNTR) locus DXS52 (St14) to formulate an informative and accurate carrier detection and prenatal diagnosis. The study included 46 families with at least one child affected with haemophilia A, and 30 unrelated normal females as control group. Polymerase chain reaction (PCR) and restriction enzyme analysis were used to study the polymorphism in BCL1, and long-distance PCR for detection of VNTR (ST14) alleles. The incidence of BCL1 (+) allele was 74%, 72% and 60% in patients, mothers and control group, respectively. Expected heterozygosity for BCL1 was 40% in mothers of affected cases compared with 48% in the female control group. However, observed heterozygosity was found to be 48% in the mothers of affected cases, compared with 60% in the control group. Thus, 48% of the studied families are informative for this marker alone. Nine different alleles of VNTR (St14) were observed in mothers and six alleles in affected cases and six in the control group. The most prevalent alleles were 1300 bp (45.5% and 34%) and 700 bp (13.6% and 20%) in patients and their mothers, respectively. Observed heterozygosity in mothers was 41% compared with 43.3% in controls. The combined use of both BCL1 and St14 markers raised the informative rate to 63.6%. Carrier detection and prenatal diagnosis is possible in haemophilia A families using both DNA markers. We suggest screening haemophilic families first for BCL1 polymorphism followed by analysis of St14 locus.

Transcription factors of the anterior neural plate alter cell movements of epidermal progenitors to specify a retinal fate.

The embryonic progenitors that give rise to the vertebrate retina acquire their cell fate identity through a series of transitions that ultimately determine their final, differentiated retinal cell fates. In Xenopus, these transitions have been broadly defined as competence, specification, and determination. The expression of several transcription factors within the anterior neural plate at the time when the presumptive eye field separates from other neural derivatives suggests that these genes function to specify competent embryonic progenitors toward a retinal fate. In support of this, we demonstrate that some transcription factors expressed in the anterior neural ectoderm and/or presumptive eye field (otx2, pax6, and rx1) change the fate of competent, ventral progenitors, which normally do not contribute to the retina, from an epidermal to a retinal fate. Furthermore, the expression of these factors changes the morphogenetic movements of progenitors during gastrulation, causing ventral cells to populate the native anterior neural plate. In addition, we experimentally demonstrate that the efficacy of pax6 to specify retinal cells depends on the position of the affected cell relative to the field of neural induction. Thereby, otx2, pax6, and rx1 mediate early steps of retinal specification, including the regulation of morphogenetic cell movements, that are dependent on the level of neural-inductive signaling.

Earthquakes: health outcomes and implications in Lebanon.

Earthquakes remain damaging to human life and property. Recent reports point out that there is 50% chance to have a damaging earthquake in the next 50 years in Lebanon. Major health outcomes of earthquakes include physical injuries, cardiovascular effects and psychological reactions. Physical injuries are correlated with entrapment, higher number of floors in buildings and behavior at time of impact. Cardiovascular effects of earthquakes are either immediate or delayed. Immediate cardiovascular effects are exemplified by increased coronary death while delayed effects are reflected by the increase in coronary risk factors such as serum triglycerides and heart rate. The severity of PTSD decreases as the distance from the epicenter of the earthquake increases. Preventive measures such as implementation of safety building codes, medical emergency readiness and public education should be carried out in areas threatened by earthquakes. Also special mental health programs should be executed following an earthquake.

The impact of partial termination of food subsidy programme on food consumption pattern.

The aim of this study was to evaluate the public opinion towards the possible replacement of ration cards by cash payment and to investigate the effect of partial termination of food price subsidy programme on food consumption by families from different income brackets. A purposive sample of 300 families from Alexandria Governorates were interviewed to assess the attitude of the consumer towards the possible termination of current food subsidy programme. After one year, during which the subsidy programme was reduced, a follow up sample of 240 were interviewed. The results show that a large proportion of the families prefer the continuation of the current programme (80-81.2%), meanwhile, around 90% of them believed that subsidized foods do not reach the target group. The data show that subsidized meat and poultry are consumed by high income families while frozen subsidized fish was mostly consumed by poor families. The partial termination of the subsidy programme forced the families to reduce their consumption from sugar, tea, oil, and rice. During the second phase of the study. However the results show that high income families were least affected by the partial termination of the subsidy programme.