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holoprosencephaly/arginine

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NakalaMajaribio ya klinikiHati miliki
6 matokeo

MRI of lobar holoprosencephaly in a cat with hypodipsic hypernatraemia.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
UNASSIGNED A 2-year-old neutered female domestic shorthair cat presented with a history of hypodipsia, recurrent hypernatraemia, pelvic limb ataxia and tremor. The serum arginine vasopressin level was low for the serum osmolality. MRI of the brain revealed a failure of separation of the cerebrum,

Syndrome of inappropriate antidiuretic hormone secretion and diabetes insipidus in an infant following surgery.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Syndrome of inappropriate secretion of antidiuretic hormone and diabetes insipidus occurring in very short order in the same patient is rare. We report a 9 month-old male infant suffering form holoprosencephaly developed syndrome of inappropriate secretion of antidiuretic hormone followed by
BACKGROUND Neonatal central diabetes insipidus (CDI) with or without adipsia is a very rare complication of various complex hypothalamic disorders. It is associated with greater morbidity and a high risk of developing both hypernatremia and hyponatremia, due to the condition itself or secondary to
Diabetes insipidus (DI) is a rare disease, with a prevalence of 1:25,0001 . Central diabetes insipidus (CDI) is the most common form, and neonatal CDI has an estimated incidence of 2 per 100,000 live births2 . Congenital causes of CDI are midline cerebral and cranial

Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic deafness, Knobloch syndrome, holoprosencephaly, and bipolar affective disorder. A contig of genomic clones in this region would facilitate the

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX3,
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