Complete hydatidiform mole with concurrent fetus: Two cases of live, term birth coupled with spontaneous resolution of molar tissue.

Pregnancies with a complete hydatidiform mole and co-existing fetus (CMCF) are rare, but increasingly common due to the rising prevalence of assisted reproductive technology. They are frequently associated with adverse obstetric outcomes, providing women with the challenge of pregnancy termination or continuing the pregnancy at the risk of maternal-fetal morbidity and fetal mortality. This report demonstrates two cases of CMCF pregnancy with excellent maternal-fetal outcomes, including spontaneous resolution of the molar tissue antenatally.

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

3-Methylglutaconyl-CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3-methylglutaconate, with or without 3-hydroxyisovalerate and 3-methylglutarate. It is an ultra-rare condition, with <30 cases published in the literature. It is unclear whether the clinical features seen in reported patients are caused by the biochemical abnormalities, or whether they simply represent an ascertainment bias in patients that come to clinical attention.

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.

Biallelic pathogenic variants in , a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clinical spectrum of NDUFS8-related disorder. We present three cases from two unrelated families (a girl and two brothers) homozygous for a recurrent pathogenic variant [c.

Rash morphology as a predictor of COVID-19 severity: A systematic review of the cutaneous manifestations of COVID-19.

Approximately 6% of those with COVID-19 will experience cutaneous manifestations. Examining data from this cohort could provide useful information to help with the management of COVID-19. To that end, we conducted a systematic review primarily to assess rash morphologies associated with COVID-19 and their relationship with disease severity.

Posaconazole-induced hypertension in children with cystic fibrosis.

Posaconazole is a triazole antifungal with a broad spectrum of activity against moulds including Aspergillus spp. Emerging data suggest posaconazole may be effective in the treatment of allergic bronchopulmonary aspergillosis (ABPA) complicating cystic fibrosis (CF). Rarely, posaconazole can cause pseudohyperaldosteronism, manifesting as hypertension and electrolyte abnormalities, with a number of cases recently reported in individuals without CF.

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.

Pyridoxine-dependent epilepsy (PDE) is a potentially treatable vitamin-responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in encoding Antiquitin (ATQ), an enzyme with α-aminoadipic semialdehyde dehydrogenase (AASADH) activity which facilitates cerebral lysine degradation. Devastating outcomes including intellectual disability and significant developmental delays are still observed in 75% to 80% of pyridoxine responsive individuals with good seizure control, potentially attributable to the accumulation of toxic intermediates α-aminoadipic semialdehyde (AASA) and its cyclic form Δ-piperideine-6-carboxylate (P6C) in plasma, urine and CSF.