A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family / 亚洲男科学杂志(英文版)

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.

Knowledge attitudes and practice of parents regarding fever in children and its management at home

Fever may be a sign of both infectious and non-infectious disorders, occurs commonly in children and makes their parents unduly worried and panic as they perceived it a danger ailment. There are numerous myths and fallacy among parents related to fever management in children

Objectives Study aimed to identify the parent's knowledge regarding childhood fever and understanding of belief and attitude in the management of fever

Methods: A descriptive hospital based cross sectional study carried out among parents whose children under age 6 years were admitted to pediatric wards of a public sector teaching hospital in Peshawar with different medical conditions

Results: More than [93%] person were wrong about normal body temperature. About [37%] don't know about causes of fever where [90%] parents detect fever through tactile method, about [57%] parents don't know about appropriate body part for placing thermometer to record accurate temperature and large number of parents [40%] visit chemist for treatment after detecting fever in their kids, about [37%] brought their children to hospitals and only [13%] of total treat their children for fever at home

Conclusion: Parent's knowledge about fever and its home management was found poor in the study. Need is there to educate parents about proper assessment, detecting, recording of fever and safe practicing of fever management at home

Comparative study of co-induction with thiopentone and midazolam versus thiopentone alone in hypertensive patients

To compare the variations of heart rate and diastolic blood pressure in hypertensive patients in co-induction of anesthesia with thiopentone and midazolam versus thiopentone alone. This comparative study was conducted in Anesthesia Department Khyber Teaching Hospital, Peshawar from April, 2006 to September, 2006. Hundred indoor hypertensive cases of surgical units were included in the study. They were equally divided into two groups of 50 patients each. Group A: 50 cases who were anesthetized with thiopentone sodium alone. Group B: 50 cases who were anesthetized with midazolam/thiopentone sodium combination. A total of 100 cases were studied. In 50 cases of group A [induction with thiopentone alone], the heart rate remained stable in 36% [n=18] cases and the diastolic blood pressure remained stable in 34% [n=17] cases.While in group B [co-induction with thiopentone / midazolam], heart rate remained stable in 72% [n=36] cases and diastolic blood pressure in 70% [n=35] cases. Patients with unstable heart rate and diastolic blood pressure were more in group A [thiopentone induction group] while patients with stable heart rate and diastolic blood pressure were more in group B [co-induction group]. Co-induction with thiopentone and midazolam provides better hemodynamic stability as compared to induction with thiopentone alone in hypertensive patients. However large scale randomized controled trials are needed to study the haemodynamic stability of thiopentone and midazolam

Intussusception in children and its management

A retrospective study of 32 patients, who presented with intussuception to Civil Hospital Abbottabad was done. Abdominal pain [95%] and vomiting [89%] were the hall mark of this condition. Of the patients were below 1 year of age and there was preponderance of males [66%]