Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.

Nemaline myopathy is a skeletal muscle disorder characterized by a wide range of severity and variable presentation. While most cases present in the neonatal period with symptoms, such as hypotonia, muscle weakness, and respiratory insufficiency, delayed onset in childhood or adulthood is also observed. The pathogenesis of nemaline myopathy involves at least 12 genes, and the condition can arise from de novo mutations or be inherited in a dominant or recessive manner. In this study, we present two cases of neonates admitted to a neonatal intensive care unit (NICU) exhibiting hypotonia, muscle weakness, and respiratory insufficiency. Both cases were diagnosed with congenital nemaline myopathy, with each patient displaying distinct mutations. This report highlights the clinical and genetic heterogeneity of this condition, emphasizing the importance of early recognition and genetic evaluation for accurate diagnosis and appropriate management of affected individuals.

A Rare Cause of Ascites in Preterm Baby: A Case Report.

Bladder rupture leading to urinary ascites in neonates is a very rare occurrence. It can present as a clinical emergency, requiring resuscitation, ventilator support, and acute derangement in renal function. There are only a few reported cases so far in the literature. The commonest etiology is posterior urethral valves which can occasionally lead to urinary ascites even in fetal life. But other proposed etiologies are umbilical arterial catheterization in extreme preterm babies and iatrogenic due to urethral catheterization injuries. Early detection is crucial so that appropriate management, including surgical drainage of the urine if performed early, can lead to the normalization of renal function. Large perforations may need surgical repair after stabilization. These cases can be a challenge for both neonatologists and surgeons. We report a case of bladder perforation in an extreme preterm baby at our hospital.

Is non-operative management of acetabular fracture a viable option for older patients? A systematic review of the literature for indication, treatments, complications and outcome.

There is no consensus about the best treatment for acetabular fracture in older patients. The purpose of this study was to review the current literature looking for indication, perioperative information and outcome of nonoperative management for acetabular fractures in elderly.A systematic review of literature was performed on different research database by using various combination of the keywords "acetabular fracture", "elderly patients", "60 years", "nonoperative", "nonsurgical" and "conservative treatment".Six articles met our inclusion criteria, 315 patients aged 60 or more treated nonoperatively for acetabular fracture were included in the analysis. The average age was 78.1 years, the average follow-up length was 48.7 months. The main criteria for indication of nonoperative management for acetabular fractures were, old age (75 years or more), two or more important medical comorbidities, and minimally or undisplaced fracture. The most frequent fracture pattern was anterior column in 25.3% of cases. Fall from standard height was the most frequent causative mechanism in 80% of patients. A conversion total hip arthroplasty was performed after 8.3% of cases. A 1-year mortality of 18% was reported, an overall mortality of 33.1% at last follow-up was reported.The management of acetabular fractur in elderly is a challenging problem and there is no consensus about the best treatment. Currently, multiple treatment options have been suggested, depending on fracture pattern and patients' general conditions. Although operatively treatment allow for an early recovery, there is not an high level of evidence about the superiority in terms or complications and mortality rate compared to nonoperative treatment.

Non-invasive Cardiac Imaging During the Coronavirus Disease 2019 (COVID-19) Pandemic: A Statement from the Cardiac Imaging Working Group of the Saudi Heart Association.

COVID-19 pandemic has led to major changes in the delivery of medical care around the globe. Many investigations and elective procedures had to be rescheduled to decrease the risk of spreading the infection. Non-invasive cardiac imaging studies are requested to guide appropriate cardiac care in a variety of urgent, semi-urgent, and elective procedures. This position statement of the Cardiac Imaging Working Group of the Saudi Heart Association provides guidance into the protection of healthcare personnel, assessment of the indications of the imaging studies, and highlights consideration before, during, and after the study.

Lethal multiple pterygium syndrome.

Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.

Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples.

BACKGROUND: The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation. We sought to determine the incidence and gender distribution of G6PD deficiency, and compare the results of cord against peripheral blood in identifying G6PD DEFICIENCY neonates using quantitative enzyme activity assay. METHODS: We carried out a retrospective and cross-sectional study employing review of primary hospital data of neonates born in a tertiary care center from January to December 2008. RESULTS: Among the 8139 neonates with cord blood G6PD assays, an overall incidence of 2% for G6PD deficiency was computed. 79% of these were males and 21% were females with significantly more deficient males (p < .001). Gender-specific incidence was 3.06% for males and 0.85% for females. A subgroup analysis comparing cord and peripheral blood samples (n = 1253) showed a significantly higher mean G6PD value for peripheral than cord blood (15.12 ± 4.52 U/g and 14.52 ± 4.43 U/g, respectively, p = 0.0008). However, the proportion of G6PD deficient neonates did not significantly differ in the two groups (p = 0.79). Sensitivity of cord blood in screening for G6PD deficiency, using peripheral G6PD assay as a gold standard was 98.6% with a NPV of 99.5%. CONCLUSION: There was no difference between cord and peripheral blood samples in discriminating between G6PD deficient and non-deficient neonates. A significantly higher mean peripheral G6PD assay reinforces the use of cord blood for neonatal screening since it has substantially low false negative results.

Neonatal hepatoblastoma: two cases posing a diagnostic dilemma, with a review of the literature.

Hepatoblastoma accounts for less than 1% of all pediatric malignancies. However, it remains the most common malignant tumor of the liver in newborns. Less than 10% of hepatoblastoma cases are diagnosed in the neonatal period. The diagnosis can be very difficult due to the wide spectrum of presentation and differences in the size of the lesion at the time of detection either antenatally or during an infant's neonatal course. In this review, we describe the current investigations used to establish the diagnosis of congenital hepatoblastoma and the role of a nuclear red cell scan as an additional strategy in the evaluation of this malignant condition. The report uses two cases of neonatal hepatoblastoma to highlight both the clinical and pathologic findings, and the problems encountered in the evaluation of this disorder.

Streptococcus pneumoniae: an old bug with significant maternal-newborn implications.

Streptococcus pneumoniae is an uncommon organism identified in neonatal bacteremia, but when it occurs, it has serious implications for both the infant and the mother. Despite the similarities in the manifestations between group B streptococcus and S. pneumoniae sepsis, the latter appears to be more virulent and of marked severity, resulting in significant neonatal mortality. In the absence of a routine maternal screening protocol for S. pneumoniae colonization, aggressive newborn management constitutes the mainstay of treatment.