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

Progress in interspecific hybridization between Cicer arietinum and wild species C. bijugum.

This paper reports the production of hybrid plants between C. arietinum and C. bijugum in vitro and the transfer of hybrid plants to soil. Four chickpea cultivars, ICCV 92318, ICCV 2, ICCV 10 and KAK 2, were used as female parents. The wild species C. bijugum (accession ILWC 73) from germplasm collection at the International Centre for Agricultural Research in the Dry Areas, Aleppo, Syria, was used as male parent. Seeds of cultivated and wild chickpea were sown in the glasshouse and in the field in Andhra Pradesh, India. Crosses were carried out from October 2001 to February 2005 (4 postrainy seasons) in the field. Formation of viable green hybrid plants from the cross C. arietinum and C. bijugum with intermediate morphology between the two parents show that it is possible to obtain hybrid plants between C. arietinum and C. bijugum and that concerted efforts will yield hybrids in large numbers. Our study confirms that it is possible to cross C. bijugum with cultivated chickpea, and it would be feasible to produce a large number of hybrids to exploit the genes/traits present in C. bijugum for the improvement of cultivated species

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

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

Phenotypic spectrum associated with SPECC1L pathogenic variants:new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Recently, causative variants in SPECC1L were reported in a pedigree reported in 1988 as atypical Opitz GBBB syndrome. Six families with SPECC1L variants have been reported thus far. We report here eight further pedigrees with SPECC1L variants, including a three-generation family, and a further individual of a previously published family. We discuss the nosology of Teebi and GBBB, and the syndromes related to SPECC1L variants. Although the phenotype of individuals with SPECC1L mutations shows overlap with Opitz syndrome in its craniofacial anomalies, the canonical laryngeal malformations and male genital anomalies are not observed. Instead, individuals with SPECCL1 variants have branchial fistulae, omphalocele, diaphragmatic hernias, and uterus didelphis. We also point to the clinical overlap of SPECC1L syndrome with mild Baraitser-Winter craniofrontofacial syndrome: they share similar dysmorphic features (wide, short nose with a large tip, cleft lip and palate, blepharoptosis, retrognathia, and craniosynostosis), although intellectual disability, neuronal migration defect, and muscular problems remain largely specific to Baraitser-Winter syndrome. In conclusion, we suggest that patients with pathogenic variants in SPECC1L should not be described as "dominant (or type 2) Opitz GBBB syndrome", and instead should be referred to as "SPECC1L syndrome" as both disorders show distinctive, non overlapping developmental anomalies beyond facial communalities