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  1. Article: Diabetic embryopathy.

    Kousseff, B G

    Current opinion in pediatrics

    1999  Volume 11, Issue 4, Page(s) 348–352

    Abstract: The teratogenicity of human pregestational maternal diabetes mellitus (DM), classes B-T, is ...

    Abstract The teratogenicity of human pregestational maternal diabetes mellitus (DM), classes B-T, is beyond any doubt and leads to a spectrum of malformations known as diabetic embryopathy (DE). Gestational DM (classes A1 and A2) is not an established teratogen yet. This is linked to its late diagnosis, usually only after the 20th week, and to the incomplete understanding of the pathogenesis of DE. Since class A-T DM affects approximately 5% of all pregnancies, intensive laboratory and clinical research continues to address the numerous aspects of DE. A review of this research during 1997 and 1998 is presented for the pediatrician in order to enhance the awareness of DE and its possible role in "idiopathic" malformations for children.
    MeSH term(s) Animals ; Congenital Abnormalities/embryology ; Congenital Abnormalities/prevention & control ; Disease Models, Animal ; Female ; Fetal Diseases/embryology ; Fetal Diseases/prevention & control ; Humans ; Phenotype ; Pregnancy ; Pregnancy in Diabetics/classification ; Pregnancy in Diabetics/complications ; Pregnancy in Diabetics/diagnosis ; Pregnancy in Diabetics/genetics ; Pregnancy in Diabetics/prevention & control ; Prenatal Diagnosis
    Language English
    Publishing date 1999-08
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/00008480-199908000-00014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Gestational diabetes mellitus (class A): a human teratogen?

    Kousseff, B G

    American journal of medical genetics

    1999  Volume 83, Issue 5, Page(s) 402–408

    Abstract: Between January 1, 1982 and December 31, 1992 we evaluated 200 children of mothers with pregestational or gestational diabetes mellitus through the University of South Florida Genetics/Dysmorphology Clinics. They were a portion of the 22,100 families ... ...

    Abstract Between January 1, 1982 and December 31, 1992 we evaluated 200 children of mothers with pregestational or gestational diabetes mellitus through the University of South Florida Genetics/Dysmorphology Clinics. They were a portion of the 22,100 families seen during that period. Pregnant women with diabetes mellitus were not part of this study. One hundred and fifty-two of the 200 were offspring of mothers with gestational diabetes (classes A1 and A2). Class B1 was not encountered as a subclass of gestational diabetes in this series. Twenty-four of the 152 did not have anomalies. Forty-one of the 152 had another primary diagnosis to account for their malformations. Eighty-seven of the 152 had a constellation of anomalies or solitary structural defects as seen in diabetic embryopathy. Chromosomal, monogenic, and other teratogenic causes were excluded. The observed phenotypes matched those seen in offspring of mothers with diabetes mellitus classes B2 to T. They also corroborated the animal studies, indicating that the embryopathy of gestational diabetes has a pathogenesis similar to that in classes B2 to T, and recent epidemiological studies showing a statistically significant increase of anomalies as in diabetic embryopathy in the offspring of gestational diabetes mothers. As per established obstetric practice the testing for gestational diabetes was after gestation 16 weeks. Thus, it was impossible to prove that the anomalies of the 87 propositi were due to gestational diabetes. However, the anomalies occurred during organogenesis as in the other diabetic classes, and inferred that gestational diabetes is a human teratogen. If so, common "idiopathic" malformations may be actually caused by undiagnosed maternal gestational diabetes.
    MeSH term(s) Adolescent ; Central Nervous System/abnormalities ; Child ; Child, Preschool ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/etiology ; Databases, Factual ; Diabetes, Gestational/complications ; Female ; Heart Defects, Congenital/etiology ; Humans ; Infant ; Infant, Newborn ; Limb Deformities, Congenital/etiology ; Male ; Phenotype ; Pregnancy
    Language English
    Publishing date 1999-04-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 133387-2
    ISSN 0148-7299
    ISSN 0148-7299
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  3. Article: Multiple endocrine neoplasia 2 (MEN 2)/MEN 2A (Sipple syndrome).

    Kousseff, B G

    Dermatologic clinics

    1995  Volume 13, Issue 1, Page(s) 91–97

    Abstract: Multiple endocrine neoplasia type 2A (MEN 2A, Sipple syndrome) is an autosomal dominant phakomatosis and is most likely a paracrinopathy. The cardinal manifestations of MEN 2A--medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism-- ... ...

    Abstract Multiple endocrine neoplasia type 2A (MEN 2A, Sipple syndrome) is an autosomal dominant phakomatosis and is most likely a paracrinopathy. The cardinal manifestations of MEN 2A--medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism--indicate that the condition is one of the inherited cancer syndromes. Cutaneous, lichen amyloidosis-like lesions place MEN 2A among the genodermatoses. The gene of MEN 2A, designated as MEN2A, is in the pericentromeric region of chromosome 10; this allows for reliable prenatal and presymptomatic DNA diagnosis.
    MeSH term(s) Adrenal Gland Neoplasms/genetics ; Adrenal Gland Neoplasms/pathology ; Amyloidosis/genetics ; Amyloidosis/pathology ; Carcinoma/genetics ; Carcinoma/pathology ; Chromosomes, Human, Pair 10/genetics ; Humans ; Hyperparathyroidism/genetics ; Hyperparathyroidism/pathology ; Lichenoid Eruptions/genetics ; Lichenoid Eruptions/pathology ; Multiple Endocrine Neoplasia Type 2a/genetics ; Multiple Endocrine Neoplasia Type 2a/pathology ; Pheochromocytoma/genetics ; Pheochromocytoma/pathology ; Skin Diseases/genetics ; Skin Diseases/pathology ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/pathology
    Language English
    Publishing date 1995-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 82798-8
    ISSN 1558-0520 ; 0733-8635
    ISSN (online) 1558-0520
    ISSN 0733-8635
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  4. Article: Sipple syndrome with lichen amyloidosis as a paracrinopathy.

    Kousseff, B G

    American journal of medical genetics

    1992  Volume 42, Issue 5, Page(s) 751–753

    MeSH term(s) Amyloidosis/genetics ; Female ; Hormones/genetics ; Humans ; Multiple Endocrine Neoplasia/genetics ; Pedigree ; Skin Diseases/genetics
    Chemical Substances Hormones
    Language English
    Publishing date 1992-03-01
    Publishing country United States
    Document type Case Reports ; Comment ; Letter
    ZDB-ID 133387-2
    ISSN 0148-7299
    ISSN 0148-7299
    DOI 10.1002/ajmg.1320420526
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  5. Article: The genetics of malignant melanomas.

    Kousseff, B G

    Annals of plastic surgery

    1992  Volume 28, Issue 1, Page(s) 11–13

    Abstract: A review of the hereditary aspects of the malignant melanomas showed causal heterogeneity and similar pathogenesis based on the dysregulation of the paracrine/autocrine growth mechanisms. The genetically different malignant melanomas have a range of ... ...

    Abstract A review of the hereditary aspects of the malignant melanomas showed causal heterogeneity and similar pathogenesis based on the dysregulation of the paracrine/autocrine growth mechanisms. The genetically different malignant melanomas have a range of recurrence risks from 1% for the nonfamilial, solitary, malignant melanoma to a risk exceeding 70% for the syndromic melanomas of neurocutaneous melanosis and the nine types of xeroderma pigmentosum. A recurrence risk of 6% is relevant to the members of dysplastic nevus syndrome families without malignant melanomas and the risk increases in excess of 50% for the individuals of families with dysplastic nevi and more than one malignant melanoma.
    MeSH term(s) Cytogenetics ; Genes, Dominant ; Genetic Counseling ; Growth Substances/physiology ; Humans ; Melanocytes/drug effects ; Melanoma/classification ; Melanoma/epidemiology ; Melanoma/genetics ; Neoplasm Recurrence, Local ; Phenotype ; Prevalence ; Risk Factors ; Skin Neoplasms/classification ; Skin Neoplasms/epidemiology ; Skin Neoplasms/genetics
    Chemical Substances Growth Substances
    Language English
    Publishing date 1992-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 423835-7
    ISSN 1536-3708 ; 0148-7043
    ISSN (online) 1536-3708
    ISSN 0148-7043
    DOI 10.1097/00000637-199201000-00005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Collodion baby, sign of Tay syndrome.

    Kousseff, B G

    Pediatrics

    1991  Volume 87, Issue 4, Page(s) 571–574

    MeSH term(s) Female ; Humans ; Ichthyosiform Erythroderma, Congenital/diagnosis ; Infant, Newborn
    Language English
    Publishing date 1991-04
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
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  7. Article: Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype.

    Kousseff, B G

    American journal of medical genetics

    1992  Volume 43, Issue 4, Page(s) 651–661

    Abstract: It has been postulated that the phakomatoses are paracrine growth regulation disorders (paracrinopathies). To determine how Jadassohn nevus phakomatosis (JNP) may fit such a pathogenetic model, a phenotype analysis of 13 propositi with JNP and a review ... ...

    Abstract It has been postulated that the phakomatoses are paracrine growth regulation disorders (paracrinopathies). To determine how Jadassohn nevus phakomatosis (JNP) may fit such a pathogenetic model, a phenotype analysis of 13 propositi with JNP and a review of most reported JNP patients were done. The phenotypes of the propositi and the reviewed patients showed a great variability from a solitary congenital epidermal nevus to extensive cutaneous lesions with associated severe non-cutaneous anomalies. Review of long-term observations of JNP patients demonstrated considerable phenotypic changes within and beyond the boundaries of the nevi. The changes included a multitude of postnatal rare benign and/or malignant tumors and unusual manifestations: renal rickets, hepatomegaly, visceral cysts, vasculopathy, and even gangrene. Thus, a life-long predisposition to dysregulation of paracrine growth factors (GFs, regulatory peptides, peptide regulatory factors, and cytokines), foremost somatomedin-C (Sm-C, IGF-I), epidermal, fibroblast, platelet-derived GFs, and transforming GF-beta is implied. Laboratory evidence for the presumed GF dysregulation in the phakomatoses came from tissue culture study of patients with neurofibromatosis type 1 (NF-1). Compared to controls their "normal" skin showed ultrastructural changes of markedly increased number of melanin macroglobuli within the melanocytes. Paracrine GFs as relevant to hamartomatous growth were incriminated by radioimmunoassays of cutaneous neurofibromas showing two-fold or greater increase of Sm-C levels compared to the levels in the adjacent skin. Thus, NF-1 appears to be a paracrinopathy. JNP shows many more dynamic changes throughout the life span of the patients than NF-1. In the near future paracrinology may aid endocrinology and oncology in treating patients with disorders of these three growth mechanisms in man.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Nevus/genetics ; Nevus/pathology ; Phenotype ; Retrospective Studies ; Skin Diseases/genetics ; Skin Diseases/pathology ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology
    Language English
    Publishing date 1992-07-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 133387-2
    ISSN 0148-7299
    ISSN 0148-7299
    DOI 10.1002/ajmg.1320430402
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  8. Article: Trichothiodystrophy and ichthyosis as diagnostic signs.

    Kousseff, B G

    American journal of medical genetics

    1991  Volume 40, Issue 1, Page(s) 124–125

    MeSH term(s) Female ; Hair/pathology ; Hair/ultrastructure ; Hair Diseases/complications ; Hair Diseases/diagnosis ; Hair Diseases/pathology ; Humans ; Ichthyosis/complications ; Ichthyosis/diagnosis ; Ichthyosis/pathology ; Infant, Newborn ; Microscopy, Electron, Scanning ; Scalp/pathology
    Language English
    Publishing date 1991-07-01
    Publishing country United States
    Document type Case Reports ; Comment ; Letter
    ZDB-ID 133387-2
    ISSN 0148-7299
    ISSN 0148-7299
    DOI 10.1002/ajmg.1320400127
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  9. Article: The phakomatoses as paracrine growth disorders (paracinopathies).

    Kousseff, B G

    Clinical genetics

    1990  Volume 37, Issue 2, Page(s) 97–105

    Abstract: A microcomputer database management system retrieved all 170 probands with phakomatoses evaluated through the genetic clinics at the University of South Florida between January 2, 1982 and December 31, 1987. Neurofibromatosis (NF) was the diagnosis of ... ...

    Abstract A microcomputer database management system retrieved all 170 probands with phakomatoses evaluated through the genetic clinics at the University of South Florida between January 2, 1982 and December 31, 1987. Neurofibromatosis (NF) was the diagnosis of 118 of them; 42 had other phakomatoses and 10 had transitional phenotypes difficult to classify. The analysis of the hamartomas of all probands indicated disorganized differentiation and overgrowth of cell species characteristic for the involved tissue and location. Abundance of extracellular fibrillary components was also evident in most hamartomas. Adequate blood supply was a conditio sine qua non. This was seen in monogenic, sporadic, transitional and combined phakomatoses alike and implied a common pathogenesis. The paracrine growth factors and their regulation emerged as the most plausible common denominator for the pathogenesis. A unitary pathogenetic hypothesis is proposed that the phakomatoses represent paracrine growth regulation disorders (paracrinopathies). Conditions such as fibromatoses, lipomatoses, lipodystrophies, hemihyper/hypotrophies, including Russell-Silver and Beckwith-Wiedemann syndromes may be proven to be paracrinopathies as well.
    MeSH term(s) Dysplastic Nevus Syndrome/genetics ; Growth Substances/physiology ; Hamartoma/genetics ; Humans ; Melanosis/genetics ; Mutation ; Neoplastic Syndromes, Hereditary/genetics ; Neurofibromatosis 1/genetics ; Skin Neoplasms/genetics ; Syndrome ; Tuberous Sclerosis/genetics
    Chemical Substances Growth Substances
    Language English
    Publishing date 1990-02
    Publishing country Denmark
    Document type Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/j.1399-0004.1990.tb03485.x
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  10. Article: Neurofibromatosis: a prototype of the phakomatoses, paracrine disorders in man?

    Kousseff, B G

    The Journal of the Florida Medical Association

    1989  Volume 76, Issue 6, Page(s) 535–538

    MeSH term(s) Humans ; Neurofibromatosis 1/etiology ; Neurofibromatosis 1/physiopathology
    Language English
    Publishing date 1989-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 422686-0
    ISSN 0015-4148 ; 0093-0970
    ISSN 0015-4148 ; 0093-0970
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