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Calciphylaxis or calcific uremic arteriolopathy (CUA) is a potentially life-threatening vasculopathy involving the skin and subcutaneous tissues. It is usually associated with chronic kidney disease (CKD) and rarely with acute renal failure or predialysis patients. The clinical diagnosis of calcific uremic arteriolopathy relies on high index of suspicion. CUA is commonly associated with secondary hyperparathyroidism and high serum calcium and phosphate products. Moreover, using biopsy as a diagnostic tool is controversial, due to the high risk of poor wound healing and sepsis. Radiological studies usually reveal extensive calcification of branching vessels such as penile arteries, eventually leading to gangrene formation in extremities and penis. Histopathological analysis confirms the diagnosis of calcific uremic arteriolopathy and rules out the presence of malignancy. CUA is a systematic disease that involves multiple organs, and to the best of our knowledge this is the first reported case involving the penis, bladder, and eyes.

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Background Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. Methods We studied the phenotype–genotype correlation. Results We present the clinical manifestations and cytogenetic results of 10 unrelated Egyptian patients with 4p deletions. Karyotyping, FISH and MLPA was performed for screening for microdeletion syndromes. Array CGH was done for two patients. All patients exhibited the cardinal clinical manifestation of WHS. FISH proved deletion of the specific WHS locus in all patients. MLPA detected microdeletion of the specific locus in two patients with normal karyotypes, while array CGH, performed for two patients, has delineated the extent of the deleted segments and the involved genes. LETM1, the main candidate gene for the seizure phenotype, was found deleted in the two patients tested by array CGH; nevertheless, one of them did not manifest seizures. The study emphasized the previous. Conclusion WHS is a contiguous gene syndrome resulting from hemizygosity of the terminal 2 Mb of 4p16.3 region. The Branchial fistula, detected in one of our patients is a new finding that, to our knowledge, was not reported.

Background Mechanical prosthetic heart valves are known for their durability; however, a malfunctioning prosthesis can deteriorate rapidly to become a life-threatening complication. Our aim was to calculate a numerical index to express the rate of clinical deterioration of patients presenting with a mechanical prosthetic heart valve thrombosis (PVT), called the index of deterioration (ID), and to evaluate its usefulness in predicting hospital outcomes. Results The median ID and range were (0.43, 0.03-3) NYHA class/day. A higher ID was significantly related to early development of PVT after native valve replacement, younger age, female gender, pregnancy, non-compliance to oral anticoagulation (OAC), low LVEF%, high mean pressure gradient across a mitral prosthesis, raised serum creatinine, and SGOT on admission (P < 0.05). Independent predictors were early presentation after native valve replacement, female gender, and non-compliance to OAC (P < 0.05). ID correlated positively with the need for urgent/emergency surgery, and the durations of cardiopulmonary bypass, postoperative mechanical ventilation, and positive inotropes. ID correlated negatively with the postoperative LVEF% (P < 0.05). Median ID of the 21 mortalities (0.75, 0.1-3) was > 2.1 times that of survivors (0.35: 0.03−2; P = 0.002), and the median ID of the 29 cases with postoperative complications (0.5, 0.1-1.5) was 2.5 times that of the 39 uneventful cases (0.2, 0.03-2; P = 0.011). The ID significantly predicted both mortality (odds ratio 3.87; 1.33-1.29; P = 0.013) and mortality and hospital complications (odds ratio 4.77; 1.49-15.2; P = 0.008). The respective discriminating abilities were AUC 0.734 (0.616-0.852; P = 0.002) and 0.724 (0.61-0.835; P < 0.001). EuroScore II correlated positively with ID (r = 0.571; P < 0.001) but showed better discriminative abilities. Conclusion The simple index of deterioration was useful in monitoring deterioration and predicting hospital progression and outcomes in patients presenting with PVT.

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Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the ZEB2 gene. Here, we report on an Egyptian MWS patient diagnosed by chromosomal microarray (CMA). A 1-year-old male child was referred to the CHD clinic, National Research Centre, presenting with dysmorphic features and CHD. The patient was referred to the human cytogenetics department for cytogenetic analysis and for screening of subtelomere rearrangements and microdeletion loci, using MLPA, and all revealed normal results. CMA revealed an interstitial 2.27-Mb microdeletion in chromosome 2q, involving the entire ZEB2 gene and other genes. This study emphasizes the significance of CMA in the detection of microdeletions/microduplications and as a screening tool in cases presenting with CHD and extracardiac manifestations. MWS should be suspected in patients presenting with the characteristic facial dysmorphism, developmental delay, seizures, Hirschsprung disease, and congenital heart anomalies, especially those involving the pulmonary arteries or pulmonary valves. It is recommended to include the ZEB2 locus in the MLPA microdeletions probes.

Maternal smoking during pregnancy is one of the main causes of pregnancy complications and is correlated with poorer outcomes compared to pregnancy without smoking. Maternal smoking is associated with a statistically significant increase in the risks of placental abruption, placenta praevia, ectopic pregnancy and preterm pre-labor rupture of membranes. In addition, maternal smoking during pregnancy correlated with higher rates of low birth weight, perinatal mortality, and premature birth, as well as complications in respiratory, cardiovascular and nervous systems in childhood. Active and passive smoking of pregnant mothers seems to be one of the causative agents for these and other negative effects on both mothers and their infants. Physicians should clarify these hazardous effects to pregnant women and strongly advise them to quit smoking as soon as possible. Women who continue to smoke during pregnancy should be considered a high-risk pregnancy.