The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome

2021 ◽  
Author(s):  
Ferruccio Romano ◽  
Patrizia De Marco ◽  
Marzia Ognibene ◽  
Marco Di Duca ◽  
Simona Baldassari ◽  
...  
Keyword(s):  
Adult Female ◽  
Currarino Syndrome ◽  
First Case

First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation

2016 ◽  
Vol 17 (9) ◽  
pp. 628-632
Author(s):  
Concetta Scimone ◽  
Luigi Donato ◽  
Carmela Rinaldi ◽  
Antonina Sidoti ◽  
Rosalia D'Angelo
Keyword(s):  
Rare Diseases ◽  
Clinical Presentation ◽  
Currarino Syndrome ◽  
First Case

scholarly journals Variants of Currarino Syndrome: Embryological Association and Review of Pertinent Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Rahul Gupta ◽  
Shyam Bihari Sharma ◽  
Praveen Mathur ◽  
Ram Babu Goyal
Keyword(s):  
Sacrococcygeal Teratoma ◽  
Presacral Mass ◽  
Wound Sepsis ◽  
Causative Gene ◽  
Currarino Syndrome ◽  
Cloacal Malformation ◽  
First Case ◽  
Sacral Defect ◽  
Malformation Complex ◽  
Sigmoid Loop Colostomy

Currarino syndrome is a triad of sacral defect, anorectal malformation and a presacral mass. The diagnosis is usually made late in childhood and about 50% of cases are familial with autosomal dominant inheritance. We present two neonates (one with vestibular fistula, and another with cloacal malformation) with the features consistent with Currarino syndrome, but with Altman’s type II sacrococcygeal teratoma, that is, presacral mass having an external sacrococcygeal component also. We believe that this triad should be considered a variant of Currarino syndrome. In first case, excision of the mass along with coccyx, followed by primary Posterior Sagittal AnoRectoPlasty was performed in the same setting. The patient succumbed to death due to septicemia as a result of wound sepsis. Learning from the previous experience, we decided to do a diverting sigmoid loop colostomy followed by posterior sagittal excision of the mass along with coccyx, in same sitting in the second case. There was no recurrence. Though HLXB9 has been identified as the major causative gene in Currarino syndrome, exact pathogenesis is still unclear. We herein highlight the significance of this variant of Currarino syndrome and propose a theory on the basis of an embryological association between the malformation complex.

scholarly journals Reproductive diseases in captive Agoutis (Dasyprocta leporina)

2022 ◽  
Vol 82 ◽  
Author(s):  
K. R. Jones ◽  
K. R. Lall ◽  
G. W. Garcia
Keyword(s):  
Cause Of Death ◽  
Adult Female ◽  
Late Gestation ◽  
Pelvic Cavity ◽  
Contributing Factors ◽  
Vaginal Tissue ◽  
Feeding Management ◽  
Intensive Farming ◽  
First Case ◽  
Uterine Inertia

Abstract Reproductive diseases have been well documented in domestic livestock such as sheep, goat, cattle and pigs. However, there is very little information on these diseases in the agouti (Dasyprocta leporina). The agouti is used for its meat in South America and the Caribbean. More recently, intensive farming of this animal is being practiced in the Neotropics. There is dearth of information on dystocia and vaginal prolapses in the agouti. This document reports on three cases of reproductive diseases in captive reared agoutis in Trinidad and Tobago. The first case was a female agouti weighing approximately 3 kg that was in the last stage of pregnancy, which was found dead in its cage. The vulva of the mother had the protruding hind-limbs of the fetus. Necroscopic evaluation of carcass revealed little fat tissue and the mother had two fetuses in the right horn of the uterus. Each fetus weighed approximately 200 g. The fetuses were well formed with fur, teeth and eyes. The placenta was attached to each fetus. The pathological findings suggested that dystocia resulted from secondary uterine inertia which was the cause of death of the adult female agouti. The second case was that of an adult female agouti weighing 2.5 kg. This female had given birth to an offspring three weeks prior and was observed to have had a vaginal prolapse. Surgery was performed and the prolapsed vagina was placed back into the pelvic cavity. Further to this intervention, the vagina prolapsed twice. Subsequent to the re-insertion of the vaginal tissue the agouti was euthanized. The third case was also that of a dystocia. However, the fetuses weighed 235 g and 165 g respectively and were in normal presentation, posture and positioning. The fetus however was unable to pass via the vagina and was trapped in the pelvic cavity. This caused secondary uterine inertia which was the cause of death. The causes of reproductive diseases in these cases are unknown but the feeding management and space allowance given to the agouti in late gestation may be contributing factors.

scholarly journals Dipylidium caninum: First case in an adult female from uttarakhand and review of literature

2020 ◽  
Vol 10 (2) ◽  
pp. 153
Author(s):  
Suneeta Meena ◽  
Arpana Singh ◽  
VPradeep Kumar ◽  
Rohit Gupta ◽  
Pratima Gupta
Keyword(s):  
Adult Female ◽  
Review Of Literature ◽  
Dipylidium Caninum ◽  
First Case

scholarly journals Anomalías morfológicas y cromáticas en murciélagos de Chiapas, México

2020 ◽  
Vol 10 (2) ◽  
pp. 33
Author(s):  
Matías Martínez-Coronel ◽  
Martha Isela Verona-Trejo ◽  
Yolanda Hortelano-Moncada
Keyword(s):  
Adult Female ◽  
The Other ◽  
First Case ◽  
White Spots ◽  
Leptonycteris Yerbabuenae

RESUMENCon base en ejemplares capturados en la cueva “Los Laguitos”, Chiapas, se da a conocer el primer caso de braquidactilia en un murciélago mexicano, que corresponde a un juvenil de Leptonycteris yerbabuenae. Asimismo, reportamos dos nuevos casos del fenotipo “manchas blancas” en murciélagos mexicanos; uno corresponde a un juvenil de Natalus mexicanus y el otro a una hembra adulta de Mormoops megallophyla. Éstos representan el primer y segundo caso de su especie respectivamente.Palabras clave: Braquidactilia, fenotipo de manchas blancas, hipopigmentación, leucismo, murciélagos tropicales, piebaldismo.ABSTRACTWith specimens captured in the cave “Los Laguitos”, Chiapas, Mexico, here we report the first case of brachydactyly for a Mexican bat, which corresponds to a juvenile of Leptonycteris yerbabuenae. Likewise, we report two new cases of the “white spots” phenotype for Mexican bats, one corresponds to a juvenile of Natalus mexicanus and the other to an adult female of Mormoops megallophyla, which represent the first and second cases of their species, respectively.Key words: Brachidactily, hypopigmentation, leucism, piebald, tropical bats, white spots phenotype.

scholarly journals Factor 13 Deficiency with Severe Hemorrhagic Diathesis

Blood ◽  
1966 ◽  
Vol 28 (1) ◽  
pp. 34-39 ◽  
Author(s):  
SHARON FISHER ◽  
MOSHE RIKOVER ◽  
SHIMON NAOR
Keyword(s):  
Adult Female ◽  
Normal Level ◽  
Normal Child ◽  
Umbilical Vein ◽  
Hemorrhagic Diathesis ◽  
Spontaneous Abortions ◽  
First Case ◽  
Cesarian Section ◽  
Plasma Infusions ◽  
Late Bleeding

Abstract This report presents the first case of Factor 13 deficiency in an adult female. Her hemorrhagic manifestations were repeated and severe: umbilical vein bleeding at birth, hematomas on various sites, late bleeding after cuts and, most important, severe uterine bleedings during 12 pregnancies, which were all interrupted by spontaneous abortions. Plasma infusions, assuring a Factor 13 concentration of less than 10 per cent of its normal level, normalized the hemostatic functions of the patient’s plasma clots and rendered them insoluble in concentrated urea solutions. By regular transfusions of plasma the patient’s last pregnancy had a normal course; a cesarian section was performed without any incident, and she gave birth to a normal child.

scholarly journals Mycobacterium Fortuitum causing Isolated Parotid Abscess in an Immunocompetent Adult Female: A Case Report and Review of Literature

2015 ◽  
Vol 6 (3) ◽  
pp. 125-127
Author(s):  
Sunita Chhapola ◽  
Inita Matta
Keyword(s):  
Case Report ◽  
Adult Female ◽  
Mycobacterium Fortuitum ◽  
Review Of Literature ◽  
Culture Methods ◽  
Abscess Drainage ◽  
Immunocompetent Adult ◽  
Treatment Protocols ◽  
First Case ◽  
Head Neck

ABSTRACT Introduction We report a rare case of isolated parotid abscess due to Mycobacterium fortuitum in an immunocompetent adult female, which to the best of our knowledge (on internet search) is the first case of its type. Methodology Diagnosis was based on MTBDR CM assay (Hain's) culture, followed by a positive TBAg MPT64 culture for MOTT. The patient was treated with abscess drainage and antibiotics with good results. A parotidectomy was not required in our patient. Conclusion Mycobacterium fortuitum parotid abscess is very rare. A knowledge of the pathogenicity of this organism and careful culture methods seem to be the key of accurate diagnosis. Treatment protocols are still subject to research. How to cite this article Chhapola Shukla S, Matta I. Mycobacterium Fortuitum causing Isolated Parotid Abscess in an Immunocompetent Adult Female: A Case Report and Review of Literature. Int J Head Neck Surg 2015;6(3):125-127.

Hemoglobin crystals of the red blood cells in the human renal cortex: electron microscopic observations of the renal lithiasis

1978 ◽  
Vol 36 (2) ◽  
pp. 480-481
Author(s):  
Kosuke Ueda ◽  
Hiroto Washida ◽  
Nakazo Watari
Keyword(s):  
Red Blood Cells ◽  
Blood Cells ◽  
Renal Cortex ◽  
Uranyl Acetate ◽  
Osmic Acid ◽  
Renal Lithiasis ◽  
Electron Microscopic ◽  
Hemoglobin C ◽  
First Case ◽  
Ultrathin Sections

IntroductionHemoglobin crystals in the red blood cells were electronmicroscopically reported by Fawcett in the cat myocardium. In the human, Lessin revealed crystal-containing cells in the periphral blood of hemoglobin C disease patients. We found the hemoglobin crystals and its agglutination in the erythrocytes in the renal cortex of the human renal lithiasis, and these patients had no hematological abnormalities or other diseases out of the renal lithiasis. Hemoglobin crystals in the human erythrocytes were confirmed to be the first case in the kidney.Material and MethodsTen cases of the human renal biopsies were performed on the operations of the seven pyelolithotomies and three ureterolithotomies. The each specimens were primarily fixed in cacodylate buffered 3. 0% glutaraldehyde and post fixed in osmic acid, dehydrated in graded concentrations of ethanol, and then embedded in Epon 812. Ultrathin sections, cut on LKB microtome, were doubly stained with uranyl acetate and lead citrate.

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