Histopathological study of lung in autopsy cases: a prospective study

Background: Present days the air pollution and other environmental inhalants, chemical cum toxic substances become uncontrollable. The lungs are involved in a number of infectious, inflammatory and occupational diseases. But involved in almost all cases of terminal events due to cardiovascular causes. Autopsy is an important tool in identifying the cause and manner of death and hence to establish the preventive methods. The aim of this study was to analyse the findings by the histopathological examination in lung tissue received in autopsy specimens.Methods: This study is a prospective study done on 100 autopsy cases received in the Department of Pathology, Chengalpattu medical College for a period of 6 months during July to December 2013. Gross findings were noted during autopsy and specimen was subjected to routine processing and Hematoxylin and Eosin Stain. Histopathological findings were noted.Results: Of the 100 cases, 40% shows pneumonia, 28% shows congestion, 16% shows emphysema, 2% shows normal finding. 14% cases show overlapping. Males were more commonly affected than females.Conclusions: From this study of autopsy specimens of lung the most common findings were pneumonia, emphysema, and congestion. Pneumonia was found to be the most common finding in the study. We should plan to prevent the causes and reduce the prevalence of pneumonia. Educational counseling should be given on exposure of environmental pollutants to the people

Failure to thrive - An overlooked manifestation of KMT2B-related dystonia: A case presentation

Background: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion: Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. All 12 individuals harbored a rare heterozygous variant in ZBTB7A which encodes the transcription factor Zinc finger and BTB-domain containing protein 7A, known to play a role in lympho- and hematopoiesis. ID was generally mild. Fetal hemoglobin (HbF) fraction was elevated 2.2%–11.2% (reference value  6 months) in four of the five individuals for whom results were available. Ten of twelve individuals had undergone surgery at least once for lymphoid hypertrophy limited to the pharynx. In the most severely affected individual (individual 1), airway obstruction resulted in 17 surgical procedures before the age of 13 years. Sleep apnea was present in 8 of 10 individuals. In the nine unrelated individuals, ZBTB7A variants were novel and de novo. The six frameshift/nonsense and four missense variants were spread throughout the gene. This is the first report of a cohort of individuals with this novel syndromic neurodevelopmental disorder

Histopathological study of lung in autopsy cases: a prospective study

Background: Present days the air pollution and other environmental inhalants, chemical cum toxic substances become uncontrollable. The lungs are involved in a number of infectious, inflammatory and occupational diseases. But involved in almost all cases of terminal events due to cardiovascular causes. Autopsy is an important tool in identifying the cause and manner of death and hence to establish the preventive methods. The aim of this study was to analyse the findings by the histopathological examination in lung tissue received in autopsy specimens.Methods: This study is a prospective study done on 100 autopsy cases received in the Department of Pathology, Chengalpattu medical College for a period of 6 months during July to December 2013. Gross findings were noted during autopsy and specimen was subjected to routine processing and Hematoxylin and Eosin Stain. Histopathological findings were noted.Results: Of the 100 cases, 40% shows pneumonia, 28% shows congestion, 16% shows emphysema, 2% shows normal finding. 14% cases show overlapping. Males were more commonly affected than females.Conclusions: From this study of autopsy specimens of lung the most common findings were pneumonia, emphysema, and congestion. Pneumonia was found to be the most common finding in the study. We should plan to prevent the causes and reduce the prevalence of pneumonia. Educational counseling should be given on exposure of environmental pollutants to the people