45 research outputs found
The cardiovascular phenotype of adult patients with phenylketonuria
BACKGROUND:
Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the cardiovascular phenotype in adult patients with PKU by clinical and dietary data, measurements of biochemical markers, and non-invasive examination of vascular functions.
RESULTS:
Twenty-three adult patients with PKU (age: 18-47 y; 30.8 ± 8.4 y) and 28 healthy controls (age: 18-47 y; 30.1 ± 9.1 y) were included in this study. PKU patients had significantly higher systolic and diastolic blood pressure, increased resting heart rate and a higher body mass index. Total cholesterol and non-HDL cholesterol levels were significantly increased in PKU patients, whereas plasma levels of HDL cholesterol and its subfraction HDL2 (but not HDL3) were significantly decreased. The inflammatory markers C-reactive protein and serum amyloid A protein and the serum oxidative stress marker malondialdehyde were significantly higher in patients with PKU. Venous occlusion plethysmography showed marked reduction in post-ischemic blood flow and the carotid to femoral pulse wave velocity was significantly increased demonstrating endothelial dysfunction and increased vascular stiffness.
CONCLUSIONS:
This study shows that the cardiovascular phenotype of adult PKU patients is characterized by an accumulation of traditional cardiovascular risk factors, high levels of inflammatory and oxidative stress markers, endothelial dysfunction and vascular stiffness. These data indicate the need for early cardiovascular risk reduction in patients with PKU
Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b
Background Inflammatory bowel disease (IBD)-like conditions in glycogen
storage disease (GSD) type Ib have been predominantly described in children.
Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and
hepatosplenomegaly. Based on few published cases, there is evidence that
granulocyte-colony stimulating factor (G-CSF) in patients with
glycogenosis–related pancytopenia might ameliorate the IBD-like disease
through leukocyte increase. Case presentation Here we firstly describe a case
of an adult 33-year-old Caucasian male patient with GSD type Ib accompanied
with IBD-like disease with persistent pancytopenia despite moderate-dose G-CSF
treatment. Recent vomiting and abdominal discomfort were due to a high-grade
stenosis in the transverse colon. A dose increase of the G-CSF successfully
normalized his leukocyte count. However, the stenosis worsened and surgical
therapy was needed. Conclusion We suggest that symptomatic patients with GSD
type Ib should undergo endoscopic examination in order to detect IBD-like
disease and to initiate early treatment
Personality traits and physical complaints in patients with acromegaly : a cross sectional multi-center study with analysis of influencing factors
Objective: Acromegalic patients display a distinct neuropsychological profile and suffer from chronic physical complaints. We aimed to investigate in more detail these aspects in acromegalic patients, dependent on influencing factors like disease activity, age, sex, chronic medication, surgery, pituitary radiation, pituitary insufficiency and comorbidities.
Design: Cross sectional, multicentric.
Methods: 129 patients (M/W 65/64, 58.3±12.7 ys., 53/76 with active/controlled disease). Acromegalic patients completed the following inventories: NEO-FFI, IIP-D, and the Giessen Complaints List (GBB-24), after written informed consent. Age, sex, IGF-1 concentrations, comorbidities, treatment modalities and pituitary insufficiency were documented.
Results: Acromegalic patients or specific patient-subgroups were more agreeable, neurotic, exploitable/permissive, introverted/socially avoidant, non-assertive/insecure, nurturant and less open to experience, cold/denying, domineering, compared to normal values from the healthy population (controls). Multivariable analysis demonstrated that these overall results were due to the specific patient subgroups as patients on chronic medication, with arthrosis and pituitary insufficiency. Disease activity was only associated with the trait nurturant. Higher scores for introversion were associated with arthrosis. Lower domineering was independent of any disease- or treatment related variable or comorbidity. The GBB inventory showed overall higher scores in patients, with higher scores for exhaustion and general complaints being associated with pituitary insufficiency, coronary heart disease and history of malignancy in the multivariable analysis. Joint complaints were independent of any disease- or treatment- related variable.
Conclusions: We define new aspects of a distinct neuropsychological profile in patients with acromegaly, which are largely independent of disease activity. Chronic physical complaints are more pronounced in patients than in controls, with exhaustion and general complaints showing no association with disease activity
Functional Implications of LH/hCG Receptors in Pregnancy-Induced Cushing Syndrome
Context: Elevated human choriogonadotropin (hCG) may stimulate aberrantly
expressed luteinizing hormone (LH)/hCG receptor (LHCGR) in adrenal glands,
resulting in pregnancy-induced bilateral macronodular adrenal hyperplasia and
transient Cushing syndrome (CS). Objective: To determine the role of LHCGR in
transient, pregnancy-induced CS. Design, Setting, Patient, and Intervention:
We investigated the functional implications of LHCGRs in a patient presenting,
at a tertiary referral center, with repeated pregnancy-induced CS with
bilateral adrenal hyperplasia, resolving after parturition. Main Outcome
Measures and Results: Acute testing for aberrant hormone receptors was
negative except for arginine vasopressin (AVP)–increased cortisol secretion.
Long-term hCG stimulation induced hypercortisolism, which was unsuppressed by
dexamethasone. Postadrenalectomy histopathology demonstrated steroidogenically
active adrenocortical hyperplasia and ectopic cortical cell clusters in the
medulla. Quantitative polymerase chain reaction showed upregulated expression
of LHCGR, transcription factors GATA4, ZFPM2, and proopiomelanocortin (POMC),
AVP receptors (AVPRs) AVPR1A and AVPR2, and downregulated melanocortin 2
receptor (MC2R) vs control adrenals. LHCGR was localized in subcapsular, zona
glomerulosa, and hyperplastic cells. Single adrenocorticotropic
hormone–positive medullary cells were demonstrated in the zona reticularis.
The role of adrenal adrenocorticotropic hormone was considered negligible due
to downregulated MC2R. Coexpression of CYP11B1/CYP11B2 and AVPR1A/AVPR2 was
observed in ectopic cortical cells in the medulla. hCG stimulation of the
patient’s adrenal cell cultures significantly increased cyclic adenosine
monophosphate, corticosterone, 11-deoxycortisol, cortisol, and androstenedione
production. CTNNB1, PRKAR1A, ARMC5, and PRKACA gene mutational analyses were
negative. Conclusion: Nongenetic, transient, somatic mutation-independent,
pregnancy-induced CS was due to hCG-stimulated transformation of LHCGR-
positive undifferentiated subcapsular cells (presumably adrenocortical
progenitors) into LHCGR-positive hyperplastic cortical cells. These cells
respond to hCG stimulation with cortisol secretion. Without the ligand, they
persist with aberrant LHCGR expression and the ability to respond to the same
stimulus
Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b
ENETS consensus guidelines for the standards of care in neuroendocrine tumors: Biochemical markers
Akromegalie
Die Akromegalie - Folge eines Wachstumshormon (STH) sezernierenden Hypophysentumors - ist eine seltene Erkrankung. Bei früher Diagnose ist die Akromegalie gut behandelbar. Unbehandelt - oder zu spät behandelt - führt sie zu hoher Co-Morbidität und verkürzt das Leben. Endokrinologische Therapieziele wurden kürzlich definiert: Heilung bei STHAcromegaly, caused by a growth hormone (GH)-secreting pituitary adenoma, is a rare disease. If diagnosed early therapeutic results are good. However, untreated or treated belatedly, acromegaly is associated with a high co-morbidity and reduced life-expectancy. The therapeutic goals have recently been defined as follows: complete remission or cure as G
Diagnosis and Treatment of Gastrinomas in Multiple Endocrine Neoplasia Type 1 (MEN-1)
Multiple endocrine neoplasia type 1 (MEN-1) is a rare autosomal-dominant disease. It is associated with a broad range of endocrine tumours, most frequently arising in the parathyroid glands, the pituitary and the pancreas. Most neuroendocrine tumours will be diagnosed in the pancreas as non-functioning neuroendocrine tumours or insulinomas. Forty-two percent of the patients will develop a gastrin-secreting neuroendocrine tumour, a gastrinoma. Gastrinomas in MEN-1 tend to be small, multiple and preferentially located in the duodenum. This paper will focus on the specific characteristics of gastrinomas in the setting of MEN-1 compared to sporadic gastrinomas. The developments in understanding the tumorigenesis of these tumours and the consequences for diagnosis and therapy will be discussed