Skanda (Bala Graha) and Cerebral Palsy – A Review

Among the Ashtanga Ayurveda, Kaumarbhritya focuses on child care in particular. Graharogais the most neglected portion due to excess mythological explanation, difficulty in clinical understanding, diagnosis, severity, complication, and treatment is entirely different from the routine disorder of children. Graharogas are those entities that attack and seize the body then affect the neonates and children very quickly with high mortality. Different acharyas describe Graha with their types, symptoms and treatment. Acharya Sushruta and Acharya Vagabhatta describe Skanda graha- commander-in-chief of the army of Devatas. The symptoms of the affected child resemble very much with Quadriplegic Cerebral Palsy. Cerebral palsy (CP) is the leading cause of childhood disability affecting function and development. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition communication, and behavior. Therefore, this paper aims to understand Balagraha with the modern aspect as well as its clinical application in day-to-day practice.

Understanding False Negative in Prenatal Testing

A false negative can happen in many kinds of medical tests, regardless of whether they are screening or diagnostic in nature. However, it inevitably poses serious concerns especially in a prenatal setting because its sequelae can mark the birth of an affected child beyond expectation. False negatives are not a new thing because of emerging new tests in the field of reproductive, especially prenatal, genetics but has occurred throughout the evolution of prenatal screening and diagnosis programs. In this paper we aim to discuss the basic differences between screening and diagnosis, the trade-offs and the choices, and also shed light on the crucial points clinicians need to know and be aware of so that a quality service can be provided in a coherent and sensible way to patients so that vital issues related to a false negative result can be appropriately comprehended by all parties.

Metagenome-Assembled Genomes Isolated from a Human Fecal Diarrhea Sample

ABSTRACT Diarrheal infection is the second leading infectious disease that is killing children under the age of 5 years. This study investigates the microbial community within a fecal sample from a diarrhea-affected child through shotgun metagenomic sequencing.

Patella sleeve fracture injury: a case report

Patella sleeve fracture is a rare injury that occurs in children and is characterized by an avulsion of extensive sleeve of cartilage and periosteum with small bony fragments, usually from the inferior pole of the patella. It is important to make this diagnosis promptly and act accordingly, because a delay or misdiagnosis will result in severe permanent disability to the affected child. A case of this injury is presented to create awareness among physicians, especially front-liners within the medical community in Sub-Saharan Africa, where such an injury has been rarely reported in the literature. The presentation, evaluation, management and outcome over a six months period is being presented.

Cleft Palatal Fistula: Perspectives on Management With Review of Literature

The goals of cleft palate surgery are an effective barrier between the nasal and oral air passages leading to functional outcomes in terms of speech, feeding and hearing for the affected child. But unfortunately, these goals are sometimes not easily attained and complicated by Cleft Palate Fistulas (CPFs), which adversely affects not only the child but also the parents. The principles of cleft palate surgery include a two-layer, tension-free, watertight closure with preservation of the greater palatine neurovascular pedicle. This article aims to give a broad review of the current perspectives in the management of this distressing complication.

Long-Term Mental Health Outcomes in Mothers and Siblings of Children With Cancer: A Population-Based, Matched Cohort Study

PURPOSE Although a diagnosis of childhood cancer can have a profound effect on the entire family unit, its impact on the long-term mental health of family members is not well characterized. METHODS A provincial childhood cancer registry in Ontario, Canada, was linked to birth records to identify separate population-based cohorts of mothers and siblings of children diagnosed with cancer between 1998 and 2014. The mother and sibling cohorts were matched to corresponding population controls and linked to health services data. The rate of mental health–related outpatient visits (family physician, psychiatrist) and the incidence of severe psychiatric events (psychiatric emergency department visit, psychiatric hospitalization, suicide) were compared between mothers and siblings and their controls. Possible predictors of mental health outcomes were examined, including demographics, characteristics of the cancer-affected child, and cancer treatment. RESULTS We identified 4,773 mothers and 7,897 siblings of children diagnosed with cancer during the study period. Compared with controls, both groups experienced elevated rates of outpatient visits (mothers: rate ratio [RR], 1.4; P < .0001; siblings: RR, 1.1; P < .0001). The risk of severe psychiatric events was not increased in either cohort. Mother and sibling demographic factors associated with increased risk of adverse mental health included younger maternal age at cancer diagnosis, low socioeconomic status, and rural residence among mothers and older sibling age among siblings. Treatment-related variables pertaining to the cancer-affected child were not associated with mental health outcomes. Mental health outcomes clustered within families. CONCLUSION Both mothers and siblings experience elevated and prolonged need for mental health–related health care as compared with the general population. Demographic risk factors predict subpopulations at highest risk. Increased psychosocial support for family members during and after cancer therapy is warranted.

The true panel of Cystic Fibrosis mutations in the Sicilian population

Background: the aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. Methods: a longitudinal CFTR screening of 1,279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient’s blood. Results: one patient out of 16 was a carrier of a CFTR mutation. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission. Conclusions: the risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia

Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features. We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed a novel homozygous missense mutation in TRPM6, which was confirmed as a heterozygous allele in both parents and two younger siblings who had transient hypomagnesaemia. Using in silico modelling, we provide evidence that the missense variant p.(K1098E) in TRPM6 is pathogenic, as it disrupts stabilising TRP domain interactions. Management of familial hypomagnesaemia relies on prompt recognition, early magnesium replacement and lifelong monitoring.