Publications by authors named "Jean-Christophe Maiza"
Context: Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear.
Objective: To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients.
Article Synopsis
- Prolactinomas account for a significant portion of pituitary adenomas, yet the genetic factors behind these tumors remain largely unexplored, prompting a study of hereditary links.
- The study analyzed genetic and clinical data from 506 patients with isolated prolactinomas, discovering that 2.8% carried pathogenic variants in key genes related to tumor predisposition, particularly among those diagnosed before age 30.
- No relevant mutations were found in patients over 30, highlighting the importance of focusing on younger patients and those with a family history when assessing genetic risks for prolactinomas.
Aim: Diabetes mellitus is associated with both the risks of severe dengue and dengue-related deaths, however the factors characterizing dengue in the diabetic patient are ill-recognized. The objective of this hospital-based cohort study was to identify the factors characterizing dengue and those able to early identify dengue severity in the diabetic patient.
Methods: We retrospectively analysed demographic, clinical and biological parameters at admission in the cohort of patients who consulted at the university hospital between January and June 2019 with confirmed dengue.
Aim: Subjects with Familial Partial Lipodystrophy type 2 (FPLD2) are at high risk to develop diabetes. To better understand the natural history and variability of this disease, we studied glucose tolerance, insulin response to an oral glucose load, and metabolic markers in the largest cohort to date of subjects with FPLD2 due to the same LMNA variant.
Methods: A total of 102 patients aged > 18 years, with FPLD2 due to the LMNA 'Reunionese' variant p.
A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Eur J Endocrinol
August 2021
Aims: LMNA-linked familial partial lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases. We aimed to characterise the disease phenotype in a cohort of patients carrying an LMNA founder variant.
Methods: We collected clinical and biological data from patients carrying the monoallelic or biallelic LMNA p.
Hyperandrogenism revealing an unexpected granulosa cell tumor.
J Gynecol Obstet Hum Reprod
April 2020
Objectives: While the prevalence of Group B streptococcus (GBS) colonization is important, little is known about invasive GBS (iGBS) disease in tropical areas. Our objective was to assess the burden of iGBS disease among non-pregnant adults.
Methods: A prospective hospital-based study of all non-pregnant adult patients with iGBS disease was conducted between January and December 2011 in Saint Pierre, Réunion Island, to assess its cumulative incidence rate (CIR).
Article Synopsis
- - The study aimed to see if a plasma β-hydroxybutyrate (BOHB) level greater than 2700 μmol/l during a 72-hour fasting test can definitively rule out endogenous hyperinsulinaemic hypoglycaemia (EHH).
- - Researchers analyzed BOHB levels in 39 EHH patients and compared those with BOHB levels above and below 2700 μmol/l, as well as 59 control subjects, noting significant differences in insulin levels between the two patient groups.
- - The results showed that some EHH patients can have elevated BOHB levels despite the condition, indicating that high BOHB levels do not eliminate the possibility of recurring EHH, especially in patients with a history
Context: McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, café-au-lait skin pigmentations, and gonadotropin-independent sexual precocious puberty, resulting from a somatic postzygotic activating mutation of the GNAS1 gene.
Setting: We report a virilizing sclerosing-stromal tumor of the ovary in a young female with MAS.
Patient: She presented polyostotic fibrous dysplasia of the left upper and lower limbs and a café-au-lait skin spot in the posterior area of the neck.
To describe glucose status changes in patients with acromegaly receiving somatostatin analog lanreotide as primary treatment. This retrospective, single-center study conducted during 1996-2008, included acromegalic patients receiving primary lanreotide treatment. Baseline and last follow-up visit assessments included glucose status (according to American Diabetes Association criteria), growth hormone (GH), and insulin-like growth factor-1 (IGF-1) levels.
View Article and Find Full Text PDFObjective: Some patients with parathyroid carcinoma present with an over-production of nontruncated amino-terminal (NT-N) parathyroid hormone (PTH), a post-transcriptionally modified form of PTH(1-84). This is usually picked up on an elevated whole (W) PTH (third-generation)/total (T) (second-generation) PTH assay ratio (N > 0·8).
Patients And Design: Two parathyroid cancer patients with several episodes of hypercalcaemia and multiple surgeries are described.
Context: Divergence between GH and IGF1 values are often reported in treated acromegalic patients, but the mechanisms of this discrepancy have not been completely explored.
Objective: To evaluate the frequency of divergence between GH and IGF1 values and identify the role of clinical and metabolic factors in treated patients with acromegaly, according to the latest criteria of Cure published in July 2010.
Design: Retrospective study of patients' records between October 2002 and March 2008.
We present the case of a 51-year old female patient with acromegaly that was resistant to somatostatin analogs and dopamine agonists. The patient was diagnosed with breast cancer requiring treatment with the anti-estrogen tamoxifen. Prior to initiating the treatment with tamoxifen, the IGF-I level was very high at 415% of the upper limit of normal for the patient's age and sex.
View Article and Find Full Text PDFArticle Synopsis
- Primary hyperparathyroidism (PHP) can be caused by benign conditions or parathyroid carcinoma, which may show a high ratio of third generation/second generation PTH levels in some patients.
- This study focused on a case of a 60-year-old woman with parathyroid carcinoma and monitored her PTH levels using both assays before and after surgery, revealing significant differences.
- The findings suggest that a high third generation/second generation PTH ratio may indicate parathyroid carcinoma, while normal ratios are typical in patients with benign PHP and osteoporosis, hinting at the need for tailored surgical approaches for those with elevated ratios.
Context: The role of somatostatin analogues (SSTa) in the treatment of acromegaly.
Objective: To evaluate the antihormonal and antitumour efficacy of long-term (up to 18 years) primary treatment with SSTa in patients with GH-secreting pituitary adenoma responsive to SSTa.
Design: An open, prospective, single-centre, clinical study.
Objective: To report a case of probable fenofibrate-induced gynecomastia.
Case Summary: A 56-year-old white hypercholesterolemic man was treated with fenofibrate 160 mg/day for 1 year. During the course of treatment, he developed gynecomastia on the left side, which resolved after the drug was stopped and replaced with alpha tocopherol acetate.