scholarly journals Bilateral syndactyly of both extremities in a new born - a case report

2012 ◽  
Vol 01 (03) ◽  
pp. 144-147
Author(s):  
N Ratnakar Rao ◽  
N Bhavani
Keyword(s):  
Cell Death ◽  
Case Report ◽  
X Ray ◽  
New Born ◽  
Bony Fusion ◽  
Diagnostic Interpretation ◽  
Normal Life ◽  
Rare Anomaly ◽  
Female Baby ◽  
Hands And Feet

AbstractSyndactyly is a condition where in two or more digits are fused together. A newborn female baby showed not only webbing of the fingers but also toes. X-ray of both hands and feet showed no bony fusion. Syndactyly is a rare anomaly that has surgical and psychological implications. Normally mesenchyme between prospective digits in hand and foot plates is removed by cell death (apoptosis) when this process fails the result is fusion between two or more digits. It occurs as one in every 2000 to 2500 births and twice as common in males. Though it is very rare it can be corrected surgically and child can live a normal life. The knowledge of digit formation and causes for abnormalities in the digits and toes are important for radiologists, obstetricians and surgeons for accurate diagnostic interpretation.

scholarly journals Antenatal Diagnosis of Conjoined Twins - Parapagus Dicephalus A Case Report

1970 ◽  
Vol 6 (1) ◽  
pp. 61-65
Author(s):  
Kasturi Mummigatti ◽  
Aeda Shamshal
Keyword(s):  
Case Report ◽  
Apgar Score ◽  
Antenatal Diagnosis ◽  
Conjoined Twins ◽  
Postnatal Life ◽  
Severe Lesion ◽  
New Born ◽  
Female Baby

A case of 5 hour old, new born alive female baby laterally fused with two heads, two necks, one body with two legs and three fully formed upper arms and the 3rd arising between the two heads with Apgar score of one and five, diagnosed antenatally and born by Em CS Section at 32 weeks to a 30 year G7P5 with previous CS, died after five hours of birth, a severe lesion such as that found in this case of dicephalus parapagus conjoined twins which is incompatible with postnatal life account for less than 0.5% of all reported cases of conjoined twins who fail to survive is brought to discussion. Keywords: Parapagus, Dicephalus, Conjoined twins. DOI: http://dx.doi.org/10.3126/njog.v6i1.5256 NJOG 2011; 6(1): 61-65

Congenital Syphilis Simulating Bone Neoplasm in 2-Month Old Infant – Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Case Report ◽  
Congenital Syphilis ◽  
Eosinophilic Granuloma ◽  
Osteolytic Lesion ◽  
Lower Limbs ◽  
Upper Body ◽  
Elective Cesarean Section ◽  
Distal Fibula ◽  
X Ray

Introduction: Congenital Syphilis (CS) occurs through the transplacental transmission of Treponema pallidum in inadequately treated or non-treated pregnant women, and is capable of severe consequences such as miscarriage, preterm birth, congenital disease and/or neonatal death. CS has been showing an increasing incidence worldwide, with an increase of 208% from 2009 to 2015 in Brazil. Case report: 2-month old infant receives care in emergency service due to edema of right lower limb with pain in mobilization. X-ray with osteolytic lesion in distal fibula. Infant was sent to the Pediatrics Oncology clinic. Perinatal data: 7 prenatal appointments, negative serology at 10 and 30 weeks of gestation. End of pregnancy tests were not examined and tests for mother’s hospital admission were not requested. Mother undergone elective cesarean section at 38 weeks without complications. During the pediatric oncologist appointment, patient showed erythematous-squamous lesions in neck and other scar-like lesions in upper body. A new X-ray of lower limbs showed lesions in right fibula with periosteal reaction associated with aggressive osteolytic lesion compromising distal diaphysis, with cortical bone rupture and signs of pathological fracture, suggestive of eosinophilic granuloma. She was hospitalized for a lesion biopsy. Laboratory tests: hematocrit: 23.1 / hemoglobin 7.7 / leukocytes 10,130 (without left deviation) / platelets 638,000 / Negative Cytomegalovirus IgG and IgM and Toxoplasmosis IgG and IgM / VDRL 1:128. Congenital syphilis diagnosis with skin lesions, bone alterations and anemia. Lumbar puncture: glucose 55 / total proteins 26 / VDRL non reagent / 13 leukocytes (8% neutrophils; 84% monomorphonuclear; 8% macrophages) and 160 erythrocytes / negative VDRL and culture. X-ray of other long bones, ophthalmological evaluation and abdominal ultrasound without alterations. Patient was hospitalized for 14 days for treatment with Ceftriaxone 100mg/kg/day, due to the lack of Crystalline Penicillin in the hospital. She is now under outpatient follow-up. Discussion: CS is responsible for high rates of morbidity and mortality. The ongoing increase of cases of this pathology reflects a severe health issue and indicates failures in policies for the prevention of sexually transmitted diseases, with inadequate follow-up of prenatal and maternity protocols.

Hérnia Diafragmática Congênita: Relato de Caso/ Congenital Diaphragmatic Hernia: Case Report

1970 ◽  
Vol 3 (1) ◽  
pp. 27-34
Author(s):  
Lucas Tavares Dos Santos ◽  
Tânia Massini Evangelista
Keyword(s):  
Case Report ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Neonatal Intensive Care ◽  
Esophageal Hiatus ◽  
Bochdalek Hernia ◽  
Severe Respiratory Distress ◽  
X Ray ◽  
Venous Catheterization ◽  
Terapia Intensiva

Introdução: A hérnia diafragmática congênita é a falha do fechamento embrionário do músculo diafragmático, resultando em um defeito de continuidade. Esta patologia pode ocorrer pela passagem de estruturas do abdome através de um defeito no diafragma, ou haver herniação parcial do estômago através do hiato esofágico, paralisia frênica com deslocamento do conteúdo abdominal para cima, mas sem herniação, e, eventração do diafragma. Casuística: Foi relatado um caso de hérnia diafragmática congênita, hérnia de Bochdalek, em um recém – nascido do sexo feminino, que nos ultra-sonografias da gestante apresentavam sem alterações. O diagnóstico da patologia foi feito apenas após a realização de raios-X de tórax e abdome para confirmar a posição do cateterismo umbilical venoso. Discussão/Conclusão: A apresentação clínica da hérnia de diafragmática congênita inclui desconforto respiratório moderado a grave com repercussão sistêmica. O diagnóstico, em cerca de 80% dos casos, é feito por ultrassom pré-natal. O tratamento proposto foi intubação endotraqueal com ventilação mecânica e programação para correção cirúrgica da hérnia. Após correção cirúrgica da patologia, a paciente permaneceu na unidade de terapia intensiva neonatal por 21 dias para acompanhamento de pós – operatório e intercorrências na evolução. Palavras-chave: hérnia diafragmática congênita, recém-nascido, hérnia de BochdalekABSTRACTIntroduction: Congenital diaphragmatic hernia is the failure of embryonic closure of the diaphragm, resulting in a lack of continuity. This condition can occur by passing structures of the abdomen through a defect in the diaphragm, or be part herniation of the stomach through the esophageal hiatus, phrenic paralysis with displacement of abdominal contents up but no herniation, and eventration of the diaphragm. Case Report: We report a case congenital diaphragmatic hernia, such as Bochdalek hernia, in a new - born female that in ultrasounds of pregnant women showed without change. The diagnosis of the disease was made only after conducting X-ray of the chest and abdomen to confirm the position of umbilical venous catheterization. Discussion/Conclusion: Clinical presentation of congenital diaphragmatic hernia includes moderate to severe respiratory distress with systemic repercussions. The diagnosis in about 80% of the cases is done by ultrasound prenatally. The proposed treatment was endotracheal intubation with mechanical ventilation and programming for surgical correction of the hernia. After surgical pathology, the patient remained in neonatal intensive care unit for 21 days to monitor post - operative complications and evolution.  Keywords: congenital diaphragmatic hernia, newborn, Bochdalek hernia 

scholarly journals Exposure of the cytoplasm to low-dose X-rays modifies ataxia telangiectasia mutated-mediated DNA damage responses

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Munetoshi Maeda ◽  
Masanori Tomita ◽  
Mika Maeda ◽  
Hideki Matsumoto ◽  
Noriko Usami ◽  
...  
Keyword(s):  
Dna Damage ◽  
Cell Death ◽  
Ataxia Telangiectasia ◽  
Kinase Inhibitor ◽  
Surrogate Marker ◽  
X Rays ◽  
Ataxia Telangiectasia Mutated ◽  
Whole Cell ◽  
X Ray ◽  
Dna Damage Responses

AbstractWe recently showed that when a low X-ray dose is used, cell death is enhanced in nucleus-irradiated compared with whole-cell-irradiated cells; however, the role of the cytoplasm remains unclear. Here, we show changes in the DNA damage responses with or without X-ray microbeam irradiation of the cytoplasm. Phosphorylated histone H2AX foci, a surrogate marker for DNA double-strand breaks, in V79 and WI-38 cells are not observed in nucleus irradiations at ≤ 2 Gy, whereas they are observed in whole-cell irradiations. Addition of an ataxia telangiectasia mutated (ATM) kinase inhibitor to whole-cell irradiations suppresses foci formation at ≤ 2 Gy. ABL1 and p73 expression is upregulated following nucleus irradiation, suggesting the induction of p73-dependent cell death. Furthermore, CDKN1A (p21) is upregulated following whole-cell irradiation, indicating the induction of cell cycle arrest. These data reveal that cytoplasmic radioresponses modify ATM-mediated DNA damage responses and determine the fate of cells irradiated at low doses.

scholarly journals Discovery of fungal surface NADases predominantly present in pathogenic species

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Øyvind Strømland ◽  
Juha P. Kallio ◽  
Annica Pschibul ◽  
Renate H. Skoge ◽  
Hulda M. Harðardóttir ◽  
...  
Keyword(s):  
Cell Death ◽  
Aspergillus Fumigatus ◽  
Neurospora Crassa ◽  
Binding Site ◽  
Host Cell ◽  
Nicotinamide Adenine Dinucleotide ◽  
Catalytic Mechanism ◽  
Pathogenic Species ◽  
X Ray ◽  
Cellular Bioenergetics

AbstractNicotinamide adenine dinucleotide (NAD) is a key molecule in cellular bioenergetics and signalling. Various bacterial pathogens release NADase enzymes into the host cell that deplete the host’s NAD+ pool, thereby causing rapid cell death. Here, we report the identification of NADases on the surface of fungi such as the pathogen Aspergillus fumigatus and the saprophyte Neurospora crassa. The enzymes harbour a tuberculosis necrotizing toxin (TNT) domain and are predominately present in pathogenic species. The 1.6 Å X-ray structure of the homodimeric A. fumigatus protein reveals unique properties including N-linked glycosylation and a Ca2+-binding site whose occupancy regulates activity. The structure in complex with a substrate analogue suggests a catalytic mechanism that is distinct from those of known NADases, ADP-ribosyl cyclases and transferases. We propose that fungal NADases may convey advantages during interaction with the host or competing microorganisms.

scholarly journals Negative-pressure-related diffuse alveolar hemorrhage after monitored anesthesia care for vertebroplasty: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yumin Jo ◽  
Jagyung Hwang ◽  
Jieun Lee ◽  
Hansol Kang ◽  
Boohwi Hong
Keyword(s):  
Case Report ◽  
Airway Obstruction ◽  
Negative Pressure ◽  
Diffuse Alveolar Hemorrhage ◽  
Alveolar Hemorrhage ◽  
Unknown Etiology ◽  
Anesthesia Care ◽  
Monitored Anesthesia Care ◽  
X Ray ◽  
Chest X Ray

Abstract Background Diffuse alveolar hemorrhage (DAH) is a rare, life-threatening condition that can present as a spectrum of nonspecific symptoms, ranging from cough, dyspnea, and hemoptysis to severe hypoxemic respiratory failure. Perioperative DAH is frequently caused by negative pressure pulmonary edema resulting from acute airway obstruction, such as laryngospasm, although hemorrhage itself is rare. Case presentation This case report describes an unexpected hemoptysis following monitored anesthesia care for vertebroplasty. A 68-year-old Asian woman, with a compression fracture of the third lumbar vertebra was admitted for vertebroplasty. There were no noticeable events during the procedure. After the procedure, the patient was transferred to the postanesthesia care unit (PACU), at which sudden hemoptysis occurred. The suspected airway obstruction may have developed during transfer or immediate arrive in PACU. In postoperative chest x-ray, newly formed perihilar consolidation observed in both lung fields. The patients was transferred to a tertiary medical institution for further evaluation. She diagnosed with DAH for hemoptysis, new pulmonary infiltrates on chest x-ray and anemia. The patient received supportive care and discharged without further events. Conclusions Short duration of airway obstruction may cause DAH, it should be considered in the differential diagnosis of postoperative hemoptysis of unknown etiology.

scholarly journals Bilateral scrotoshisis a rare entity: case report

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Shazia Perveen ◽  
Mishraz Shaikh ◽  
Sajid Ali
Keyword(s):  
Case Report ◽  
Rare Entity ◽  
Case Presentation ◽  
Rare Anomaly ◽  
Normal Term ◽  
Twin Delivery

Abstract Background Scrotoschisis is a rare anomaly in which the testis is lying outside scrotum congenitally. Only few cases have been reported in literature under different names most of which are unilateral. We have found only one case of bilateral scrotoschisis in literature. Case presentation Newborn presented to us after normal term twin delivery as a case of bilateral scrotoschisis in which both testes were lying outside the scrotum congenitally. Baby underwent uneventful bilateral orchiopexy and was discharged home the next day. Conclusion Scrotoschisis is a very rare genital anomaly with only a few cases reported in literature. This report would add to the literature which would help in studying the exact mechanism and embryopathogenesis of this anomaly which is not known yet.

scholarly journals Lesion with blue bone-a case report

2018 ◽  
Vol 8 (1) ◽  
pp. 1323-1325
Author(s):  
Laila Mohamed Ilias ◽  
Babitha Alingal Mohammed ◽  
Roshini PS ◽  
Anupama Ponniah ◽  
Poornima Vijayan
Keyword(s):  
Histopathological Examination ◽  
Fibrous Tissue ◽  
Bone Lesion ◽  
Metacarpal Bone ◽  
Cortical Surface ◽  
Bizarre Parosteal Osteochondromatous Proliferation ◽  
X Ray ◽  
Spindle Cells ◽  
Small Bones ◽  
Hands And Feet

Bizzare parosteal osteochondromatous proliferation, or Nora‘s lesion is a unique bone lesion that most often arises in the small bones of hands and feet.  It is characterised by proliferation of chondroid, bony and fibrous tissue, and is occasionally misdiagnosed as a malignant process.  Our case was a 31 yr old lady, who presented with a painless swelling near the 5th metacarpal bone of right hand.  X-ray showed well marginated mineralised mass arising from the cortical surface of the metacarpal bone.  Histopathological examination revealed bizarre parosteal osteochondromatous proliferation composed of varying amounts of cartilage, bone and spindle cells. Cartilage was hypercellular and chondrocytes were enlarged. Ossification was irregular and had a peculiar blue tinctorial quality. 

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