Neonatal Cholestasis: The Changing Etiological Spectrum in Pakistani Children.

OBJECTIVES: To determine the frequency of clinical presentation and laboratory profile in the diagnosis of the etiological spectrum of neonatal cholestasis. MATERIAL AND METHODS:  In this prospective cross-sectional study, we recruited children who presented with jaundice and direct hyperbilirubinemia with onset in the first three months of life. The study was conducted between April 2019 to March 2021 (24 months) at the Government Lady Reading Hospital of Khyber Pakhtunkhwa province in Pakistan. The diagnosis was based on history and clinical findings that included jaundice, stool color, itching, abdominal distention, and deranged liver function tests and confirmed on liver biopsy and specific diagnostic tests. Data was recorded and analyzed using SPSS version 20 (IBM Corp., Armonk, NY). RESULTS: A total of 90 children were included in the study, out of which 65.6% were male. The average age was recorded as 118.01 days + 118.1 SD. Jaundice, dark urine, and hepatomegaly were found in 85.6% of children while ophthalmologic disorder, congenital heart disease, and itching were the least common symptoms. Laboratory findings of the cholestasis patients showed high bilirubin (mean: 8.88 mg/dL), alanine transaminase (ALT) (mean: 177.48 IU/mL), aspartate transaminase (AST) (mean: 187.11 IU/mL), gamma-glutamyl transpeptidase (GGT) (mean: 187.66 IU/mL) and prolonged international normalized ratio (INR) (mean: 2.20) in majority of patients. The genetic and metabolic disorder was the leading cause found in the majority of children, which was 43.8%. CONCLUSION: The common causes of neonatal cholestasis in this study are galactosemia, idiopathic hepatitis, and biliary atresia. The common presentation includes jaundice, hepatomegaly, direct hyperbilirubinemia, raised liver enzymes, and INR.

Zika virus exposure in pregnancy and its association with newborn visual anomalies and hearing loss.

Exposure to Zika virus (ZIKV) in pregnancy leads to a spectrum of congenital effects in the newborn. Recent studies have begun to evaluate the impact of ZIKV during pregnancy. Among 39 relevant studies, nine were related specifically to clinical studies of ophthalmologic disorders and one was related to hearing loss impairment; most of these studies were case reports and case series reports. Importantly, congenital toxoplasmosis was ruled out in all studies. The data show that, in addition to microcephaly, ZIKV exposure in pregnancy may result in subtle ocular impairments in the newborn. The most common anomalies are macular pigment mottling and/or chorioretinal atrophy, and optic nerve disorders. Sensorineural hearing loss has also been noted in 5.8% of infants with microcephaly. The effects of ZIKV infection during pregnancy are potentially devastating to the fetus and newborn. Although microcephaly is an important signal, the current information emphasizes the importance of ocular and auditory screenings, otherwise sight and hearing anomalies may be underestimated. Healthcare providers should fully understand the spectrum of anomalies related to ZIKV exposure in pregnancy in order to counsel pregnant women living in high-risk areas, in addition to those wanting to become pregnant.

Síndrome Kenny-Caffey en varios miembros de una familia / Kenny-Caffey Syndrome in several members of a family

El síndrome Kenny-Caffey es una enfermedad hereditaria, extremadamente rara, que se transmite de forma autosómica dominante y se caracteriza por retraso del crecimiento, anomalías oculares, hipocalcemia y engrosamiento cortinal de los huesos largos, cuyo diagnóstico precoz e intervención temprana ayudarán a mejorar la calidad de vida de los afectados. Se presenta a 2 miembros de una familia (la madre y un hijo), atendidos en la consulta de genética clínica de la provincia de Holguín, con características clínicas que se correspondían con dicho síndrome, para compartir estos hallazgos con la comunidad médica en general, pues llamó la atención que estuvieran afectados 3 personas de una misma familia, aunque solo se describe a 2 de ellos

The Kenny-Caffey syndrome is a hereditary, extremely strange disease that is transmitted in an autosomal dominant way and is characterized by growth failure, ocular anomalies, hypocalcemia and cortinal swelling of the long bones whose early diagnosis and intervention will help to improve the life quality of affected patients. Two members of a family are presented (mother and a son), assisted in the clinical genetics service in Holguín, with clinical characteristics that fitted with this syndrome, to share these findings with the medical community in general, because the fact that 3 people of the same family were affected attracted attention, although just 2 of them are described

A Study of Driving Behaviors among Patients with Chronic Ophthalmological Disorders

PURPOSE: This study examines driving behaviors among patients treated for chronic ophthalmologic disorders and the effects of visual acuity and visual field on driving performance. METHODS: A 15-item survey was given to 153 patients treated for chronic ophthalmologic disorders including diabetic retinopathy, glaucoma, retinal vessel occlusions, and senile macular degeneration. Six items questioned the patient's discomfort based on a five-point scale according to different driving conditions and one item involved a self-assessment of driving problems. Results were compared with the best corrected visual acuity (BCVA) and visual fields of the patients. RESULTS: In total, 16.2% of first-class drivers and 24.1% of second-class drivers rated below the evaluation standards of the driving license aptitude test. Overall, 82.6% of the patients continued to drive, while 7.8% renounced driving due to decreased visual acuity. Patient discomfort was significantly correlated with visual acuity (r = -0.503, p < or = 0.01). Among the patients scoring below the evaluation standards, 74.2% responded that their visual acuity had become a problem while driving. CONCLUSIONS: These results call for appropriate driving programs and measures to educate people about responsive driving considering the visual function of patients treated for chronic ophthalmologic disorders.