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.

Molecular characterization of a case of atransferrinemia

Blood ◽  
2000 ◽  
Vol 96 (13) ◽  
pp. 4071-4074 ◽  
Author(s):  
Ernest Beutler ◽  
Terri Gelbart ◽  
Pauline Lee ◽  
Reneé Trevino ◽  
Mark A. Fernandez ◽  
...  
Keyword(s):  
Amino Acid Position ◽  
The United States ◽  
Microcytic Anemia ◽  
Compound Heterozygote ◽  
Iron Loading ◽  
First Case ◽  
Transferrin Gene ◽  
Flanking Regions ◽  
Plasma Infusions

Hereditary atransferrinemia is a rare but instructive disorder that has previously been reported in only 8 patients in 6 families. It is characterized by microcytic anemia and by iron loading, and can be treated effectively by plasma infusions. We now report the first case known in the United States. We determined the sequences flanking the exons of the human transferrin gene and sequenced all of the exons and some of the flanking regions of the patient's DNA and that of her parents. The patient's DNA revealed a 10-base pair (bp) deletion, followed by a 9-bp insertion of a duplicated sequence. There was also a G→C transversion at complementary DNA (cDNA) nt 1429, predicting that a proline was substituted for the alanine in amino acid position 477 (Ala 477 Pro). The latter mutation occurs at an evolutionarily highly conserved site; 704 control alleles were screened and this point mutation was not found. Each of the patient's transferrin genes contains one mutation, ie, the patient is a compound heterozygote for these mutations, because one was found in each of her parents. In addition to these mutations, which we regard to be causative in the patient's atransferrinemia, a silent polymorphism at cDNA 1572 G→C was found in exon 13 as well as 2 previously unreported polymorphisms at IVS8 + 62 c→t and IVS14-4 c→a. The mutation in nt 1572 and that in intron 8 were common in the general population; the intron 14 mutation is rare.

Molecular characterization of a case of atransferrinemia

Blood ◽  
2000 ◽  
Vol 96 (13) ◽  
pp. 4071-4074 ◽  
Author(s):  
Ernest Beutler ◽  
Terri Gelbart ◽  
Pauline Lee ◽  
Reneé Trevino ◽  
Mark A. Fernandez ◽  
...  
Keyword(s):  
Amino Acid Position ◽  
The United States ◽  
Microcytic Anemia ◽  
Compound Heterozygote ◽  
Iron Loading ◽  
First Case ◽  
Transferrin Gene ◽  
Flanking Regions ◽  
Plasma Infusions

Abstract Hereditary atransferrinemia is a rare but instructive disorder that has previously been reported in only 8 patients in 6 families. It is characterized by microcytic anemia and by iron loading, and can be treated effectively by plasma infusions. We now report the first case known in the United States. We determined the sequences flanking the exons of the human transferrin gene and sequenced all of the exons and some of the flanking regions of the patient's DNA and that of her parents. The patient's DNA revealed a 10-base pair (bp) deletion, followed by a 9-bp insertion of a duplicated sequence. There was also a G→C transversion at complementary DNA (cDNA) nt 1429, predicting that a proline was substituted for the alanine in amino acid position 477 (Ala 477 Pro). The latter mutation occurs at an evolutionarily highly conserved site; 704 control alleles were screened and this point mutation was not found. Each of the patient's transferrin genes contains one mutation, ie, the patient is a compound heterozygote for these mutations, because one was found in each of her parents. In addition to these mutations, which we regard to be causative in the patient's atransferrinemia, a silent polymorphism at cDNA 1572 G→C was found in exon 13 as well as 2 previously unreported polymorphisms at IVS8 + 62 c→t and IVS14-4 c→a. The mutation in nt 1572 and that in intron 8 were common in the general population; the intron 14 mutation is rare.

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

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 Ductus Venosus Agenesis as a Marker of Pallister–Killian Syndrome

Medicina ◽  
2019 ◽  
Vol 55 (7) ◽  
pp. 374
Author(s):  
María Victoria Lapresa Alcalde ◽  
Ana María Cubo ◽  
María Carmen Martín Seisdedos ◽  
Javier Cortejoso Hernández ◽  
María José Doyague Sanchez ◽  
...  
Keyword(s):  
Cultured Cells ◽  
Chromosomal Abnormalities ◽  
Umbilical Vein ◽  
Skin Pigmentation ◽  
Structural Defects ◽  
Ductus Venosus ◽  
Genetic Syndromes ◽  
Severe Intellectual Disability ◽  
First Case ◽  
Specific Tissue

The ductus venosus (DV) is a shunt that allows the direct flow of well-oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation through the foramen ovale. Its agenesis has been associated with chromosomal abnormalities and rare genetic syndromes, structural defects, intrauterine growth restriction (IUGR) and even antepartum fetal demise. Pallister–Killian Syndrome (PKS) is a rare sporadic disorder with specific tissue mosaic distribution of an extra 12p isochromosome (i(12p)). Its main clinical features are moderate to severe intellectual disability/neuromotor delay, skin pigmentation abnormalities, typical facial appearance, variable association with multiple congenital malformations and epilepsy. Though prenatal findings (including congenital diaphragmatic hernia, ventriculomegaly, congenital heart disease, polyhydramnios, and rhizomelic shortening) have been described in literature, prenatal diagnosis is difficult as there are no associated identification signs no distinctive or pathognomonic signs, and some of these malformations are hard to identify prenatally. The tissue mosaicism linked to this syndrome and the decrease of the abnormal clone carrier of the i(p12) after successive trypsinizations of cultured cells makes the diagnosis even more challenging. We present the case of a 27.5 weeks pregnant woman with a fetal ductus venosus agenesis (DVA) as the main guide marker. To our knowledge this is the first case published in literature reporting a DVA as a guide sign to diagnose a complex condition as Pallister–Killian syndrome. We also underscore the key role of new genetic techniques as microarrays to avoid misdiagnosis when only a subtle sonographic sign is present in complex conditions like this.

Porto-systemic shunt – a rare cause of hyperandrogenism in children. Two case reports and review of literature

2020 ◽  
Vol 33 (8) ◽  
pp. 1105-1109
Author(s):  
Mikołaj Danko ◽  
Anna Malinowska ◽  
Elżbieta Moszczyńska ◽  
Joanna Pawłowska ◽  
Maria Szarras-Czapnik ◽  
...  
Keyword(s):  
Polycystic Ovary ◽  
Umbilical Vein ◽  
Case Reports ◽  
Femoral Vein ◽  
Unknown Origin ◽  
Serum Testosterone ◽  
High Serum ◽  
Ductus Venosus ◽  
High Concentration ◽  
First Case

AbstractObjectivesThe main cause of hyperandrogenism in children is congenital adrenal hyperplasia, adrenal and gonadal tumors, polycystic ovary syndrome (PCOs) and Cushing’s disease. In the last 20 years several descriptions of girls with hyperandrogenism and venous porto-systemic shunts appeared in literature.Case presentationFirst case is an eleven and a half-year-old girl, was admitted to Department of Endocrinology because of symptoms of hyperandrogenism. Laboratory tests revealed high serum testosterone, androstenedione, and dehydroepiandrosterone sulfate (DHEAS). The ammonia concentration was also increased. In the abdominal angio-CT scans persistent umbilical vein which connected portal and femoral vein was found. The second case was a seven-year-old boy with symptoms of precocious puberty. Blood tests also revealed high concentration of testosterone, androstenedione, DHEAS and ammonia. Imaging studies showed persistent ductus venosus.ConclusionAlthough pathophysiological relation is not clear, porto-systemic shunts should be considered as a cause of hyperandrogenism of unknown origin in children.

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.

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.

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