scholarly journals OBSERVATION ON CONGENITAL LOCO, A HEREDITARY DEFECT IN THREE FLOCKS OF CHICKEN AT IBADAN

2021 ◽  
Vol 25 (1) ◽  
pp. 6-8
Author(s):  
O. A. ADEBAMBO
Keyword(s):  
Hereditary Defect

Congenital loco, a monogenic, sex-linked hereditary defect was observed in three flocks of chicken at Ibadan. Mortality at the end of the first 4 days of life was unexplainably bigh. Noticeable signs were birds thrown off balance with necks thrown backward s, chicks unable to feed nor drink. Subsequently, they got weak, slumped and died.

scholarly journals 180: A HEREDITARY DEFECT OF THE TRANSFORMATION OF P-HYDROXYPHENYLPYRUVATE INTO HOMOGENTISIC ACID

1976 ◽  
Vol 10 (10) ◽  
pp. 900-900
Author(s):  
A Niederwieser ◽  
A Matasović ◽  
P Tippett ◽  
D M Danks ◽  
A Prader
Keyword(s):  
Homogentisic Acid ◽  
Hereditary Defect

scholarly journals Deficiency of Vitamin B12-Binding Alpha Globulin in Two Brothers

Blood ◽  
1969 ◽  
Vol 33 (1) ◽  
pp. 1-12 ◽  
Author(s):  
RALPH CARMEL ◽  
VICTOR HERBERT
Keyword(s):  
Vitamin B12 ◽  
Binding Protein ◽  
Indirect Evidence ◽  
Serum Globulin ◽  
Peripheral Leukocyte ◽  
Hereditary Defect ◽  
B12 Deficiency ◽  
Destructive Factor ◽  
Low Serum

Abstract Persistent deficiency of serum B12-binding alpha-1 globulin was demonstrated in two brothers, manifesting primarily as low serum B12 levels. Despite the inability of one subject to maintain normal levels of B12 in the blood, as shown by persistently low serum values despite monthly injections of B12, no evidence of metabolic B12 deficiency could be found. Tissue B12-storing ability appeared to be intact. His brother exhibited only minimal hypersegmentation of neutrophil nuclei; otherwise, he too presented a completely normal picture. The normally present alpha globulin B12-binder was virtually absent from saliva and peripheral leukocyte extracts of both subjects. Current indirect evidence favors neutrophils as at least a partial source of the serum globulin.33 The cause of the possibly hereditary defect in the 2 subjects is unknown. Neither excessive B12-binding protein excretion34 nor a destructive factor in their serum or leukocytes was found.

EP707 Gonadal dysgenesis: a rare congenital hereditary defect

2019 ◽  
Author(s):  
P Dzvincuk ◽  
D Ondrová ◽  
R Pilka ◽  
J Zapletalová ◽  
P Zaoralová
Keyword(s):  
Gonadal Dysgenesis ◽  
Hereditary Defect

Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study

2002 ◽  
Vol 26 (4) ◽  
pp. 327-335 ◽  
Author(s):  
Figen Seymen ◽  
Basak Kiziltan
Keyword(s):  
Primary Teeth ◽  
Microscopic Investigation ◽  
Electron Microscopic Investigation ◽  
Amelogenesis Imperfecta ◽  
Pulp Tissue ◽  
Electron Microscopic ◽  
Different Types ◽  
Scanning Electron Microscopic ◽  
Hereditary Defect ◽  
Scanning Electron

Amelogenesis imperfecta (AI) is a hereditary defect in enamel formation affecting both primary and permanent dentition. Scanning electron microscopic investigation is one of the most effective methods in diagnosing and identifying the type of amelogenesis imperfecta. The aim of this study was to investigate the ultrastructure of different types of amelogenesis imperfecta enamel. The primary teeth of three children with AI aged 4, 10 and 11-years-old were studied by scanning electron microscopy and irregular enamel, irregularities in enamel crystallites, hypoplastic areas on the enamel surface were seen. Histopathological evaluation revealed predentin areas with irregular canaliculi between normal dentin and internal resorption areas in the pulp tissue. Conclusively, in amelogenesis imperfecta, enamel tissue is mostly affected besides minor defects in dentinal and pulpal tissue.

PAGET'S DISEASE AS HEREDITARY DEFECT OF CONNECTIVE TISSUE

The Lancet ◽  
1974 ◽  
Vol 304 (7873) ◽  
pp. 158 ◽  
Author(s):  
D.J.P. Barker ◽  
M.J. Gardner
Keyword(s):  
Connective Tissue ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Hereditary Defect

Hereditary Defect of Cobalamin Metabolism (CblGMutation) Presenting as a Neurologic Disorder in Adulthood

1988 ◽  
Vol 318 (26) ◽  
pp. 1738-1741 ◽  
Author(s):  
Ralph Carmel ◽  
David Watkins ◽  
Stephen I. Goodman ◽  
David S. Rosenblatt
Keyword(s):  
Neurologic Disorder ◽  
Hereditary Defect ◽  
Cobalamin Metabolism

scholarly journals GOD’S SELF-COMMUNICATION IN HISTORY

2021 ◽  
Vol 7 (13) ◽  
pp. 19-23
Author(s):  
Charles NDHLOVU ◽  
Keyword(s):  
Jesus Christ ◽  
Final Analysis ◽  
The Other ◽  
Adam And Eve ◽  
Hereditary Defect ◽  
The Right

God’s communication in history finds fulfilment in Jesus Christ. The refusal of God’s self-communication diminishes the right use of freedom and in the final analysis, the person becomes what he should not become. This is what actually happened to Adam and Eve after eating the forbidden fruit – and we have all inherited that defect – that potency to sin. This situation can be compared to that of hereditary defect in which a defect is passed on from one person to the other. In this case, we can analogously say that all the descendants of Adam have inherited the possibility that we could abuse freedom – by choosing wrong things and this abuse of freedom was redeemed by Jesus Christ.

scholarly journals A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature

2022 ◽  
Vol 2022 ◽  
pp. 1-5
Author(s):  
Ulrich Jehn ◽  
Cornelie Müller-Hofstede ◽  
Barbara Heitplatz ◽  
Veerle Van Marck ◽  
Stefan Reuter ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Alport Syndrome ◽  
Kidney Biopsy ◽  
Novel Mutation ◽  
Basement Membranes ◽  
Homozygous Mutation ◽  
Lamina Densa ◽  
Case Presentation ◽  
Hereditary Defect

Background. Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly1436del) in the COL4A4 gene that was not unveiled until her first pregnancy. Within the 29th pregnancy week, our patient presented with massive proteinuria and nephrotic syndrome. Light microscopic examination of a kidney biopsy showed typical histological features of segmental sclerosis, and electron microscopy revealed extensive podocyte alterations as well as thickness of glomerular basement membranes with splitting of the lamina densa. One and a half years after childbirth, renal function deteriorated to a preterminal stage, whereas nephrotic syndrome subsided quickly after delivery. Conclusion. This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.

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