Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

CONTEXT: Growth hormone insensitivity (GHI) in children is characterized by short stature, functional insulin-like growth factor (IGF)-I deficiency, and normal or elevated serum growth hormone (GH) concentrations. The clinical and genetic etiology of GHI is expanding. OBJECTIVE: We undertook genetic characterization of short stature patients referred with suspected GHI and features which overlapped with known GH-IGF-I axis defects. METHODS: Between 2008 and 2020, our center received 149 GHI referrals for genetic testing. Genetic analysis utilized a combination of candidate gene sequencing, whole exome sequencing, array comparative genomic hybridization, and a targeted whole genome short stature gene panel. RESULTS: Genetic diagnoses were identified in 80/149 subjects (54%) with 45/80 (56%) having known GH-IGF-I axis defects (GHR n = 40, IGFALS n = 4, IGFIR n = 1). The remaining 35/80 (44%) had diagnoses of 3M syndrome (n = 10) (OBSL1 n = 7, CUL7 n = 2, and CCDC8 n = 1), Noonan syndrome (n = 4) (PTPN11 n = 2, SOS1 n = 1, and SOS2 n = 1), Silver-Russell syndrome (n = 2) (loss of methylation on chromosome 11p15 and uniparental disomy for chromosome 7), Class 3-5 copy number variations (n = 10), and disorders not previously associated with GHI (n = 9) (Barth syndrome, autoimmune lymphoproliferative syndrome, microcephalic osteodysplastic primordial dwarfism type II, achondroplasia, glycogen storage disease type IXb, lysinuric protein intolerance, multiminicore disease, macrocephaly, alopecia, cutis laxa, and scoliosis syndrome, and Bloom syndrome). CONCLUSION: We report the wide range of diagnoses in 149 patients referred with suspected GHI, which emphasizes the need to recognize GHI as a spectrum of clinical entities in undiagnosed short stature patients. Detailed clinical and genetic assessment may identify a diagnosis and inform clinical management.

Hyperamylasaemia: pathognomonic to pancreatitis?

An 82-year-old woman, presented with a history of vomiting, abdominal mass and a significantly raised amylase, but no clinical evidence of pancreatitis. Abdominal ultrasound and CT scans showed an ovarian tumour, and no evidence of pancreatitis-as is often associated with a raised amylase. The patient underwent bilateral ovariectomy and hysterectomy and made a good recovery.

Screening of biological activities of Polygonum maritimum L. from Algerian coast.

OBJECTIVE: To investigate the antioxidant and the antibacterial activities of crude extract from aerial part of Polygonum maritimum L. (Polygonaceae) (P. maritimum) and to find new actives biomolecules. METHODS: The whole plant was collected from the Rechgoune coast (West of Algeria), and methanolic crude extract of aerial parts of P. maritimum (PMCE) was prepared. The extract was tested against different bacterial strain and tested for his ability to neutralize free radical (DPPH) and to scavenge the H2O2. RESULTS: PMCE had a very high content of total phenol, which was (352.49±18.03) mg/g dry weight, expressed as gallic acid equivalent. PMCE exhibited excellent antioxidant activity, as measured using DPPH and H2O2 scavenging assays. It also showed a high antibacterial activity against gram-positive bacterial strains: Bacillus cereus, Bacillus subtilis and Staphylococcus aureus with an highest MIC of 120 µg/mL. CONCLUSIONS: The antioxidant and antibacterial activity of the PMCE is probably due to phenolic compounds present in the extract. The contemporary presence of antioxidant and antibacterial activities in the PMCE suggests that this plant may be a source of bioactive substances with multifaceted activity.

Removal of chromium (III) by two-aqueous phases extraction.

Two-aqueous phase extraction of chromium (III) as a solute from their aqueous solutions was investigated using polyethoxylated alcohols (CiEj) as a biodegradable non-ionic surfactant in the presence of anionic sodium dodecylbenzene sulfonate (SDBS). First, the combined effects of chromium and surfactants mixture (anionic and non-ionic) on the cloud point temperature were determined. After this, the phase diagrams of binary systems water-surfactant (NW342 and C(10)E(3)) were traced. According to the given surfactants concentration, the extracted solute reached 98.5% and 60% for NW342 and C(10)E(3), respectively at pH equal to 3. The addition of sodium chloride lowers the cloud point temperature of surfactant where the phenomenon of salting-out was pronounced. Under the optimal extraction conditions, the suggested extraction mechanism is based on chromium species-NW342 non-ionic surfactant micelles solvatation. Since, the prevalence species (93.82%) were Cr(III)(4)(OH)(6)(6+), given by a theoretical calculation using CHEAQS V. L20.1. The first stage regeneration of NW342 surfactant was 27.82% at pH equal to 4. 2(3) factorial designs were employed for screening the factors that would influence the overall optimization of a batch procedure of sorption.