Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2.

Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis.

Regio- and Stereocontrolled Hydrohalogenation of Ynamides with -Halosuccinimides (NXS) as the Halogen Source: Synthesis of ()-α-Haloenamides.

Presented herein is a facile stereoselective construction of synthetically versatile chiral and achiral ()-α-haloenamides under mild conditions utilizing -halosuccinimides and diphenylphosphine oxide. This reaction is metal-free, mild, efficient, very rapid, and practical and highlights the synthetic versatility of ynamides. The reaction has a broad substrate scope; both chiral and achiral ynamides have been transformed into the corresponding ()-α-haloenamides within a very short period of time without compromising selectivity or complexity.

All-carbon quaternary stereogenic centers in acyclic systems through the creation of several C-C bonds per chemical step.

In the past few decades, it has become clear that asymmetric catalysis is one of the most powerful methods for the construction of carbon-carbon as well as carbon-heteroatom bonds in a stereoselective manner. However, when structural complexity increases (i.e.

Enantioselective synthesis of all-carbon quaternary stereogenic centers in acyclic systems.

Most of the methods for the creation of all-carbon quaternary stereogenic centers in acyclic systems were developed in the last decade showing the contemporary interest of this field of research. Initial strategies, where chiral entities were linked to carbon skeleton, to enantioselective catalysis and finally to strategies where several carbon-carbon bonds were created in a single-pot operation, reflect the constant strive and creativity in the design and execution of synthetic sequences. This feature article summarizes these sequences and is divided into sections on substitution and additions reactions, alkylation, aldol, Mannich and rearrangements reactions.

A unique approach to aldol products for the creation of all-carbon quaternary stereocentres.

Among the challenges facing asymmetric synthesis the selective construction of quaternary stereogenic centres, particularly those bearing all-carbon substituents, stands out. The aldol reaction has the potential to create such stereocentres, but, despite the many advances in this field, a highly selective and efficient procedure has remained elusive. Here we show that, by choosing an alternative retrosynthetic approach, such products can be prepared in a highly selective fashion.

Visual field defects in epidemic dropsy.

Unlabelled: Epidemic dropsy is a multi-system disease involving the cardiovascular, hepatic, renal, ocular and other systems. It is a toxic disease caused by the unintentional ingestion of Argemone mexicana (prickly yellow poppy) seeds as an adulterant of wheat flour or more commonly of cooking oil such as mustard oil.

Purpose: To investigate the occurrence of visual field defects in patients suffering from epidemic dropsy glaucoma.

Catalytic hunsdiecker reaction of alpha,beta-unsaturated carboxylic acids: how efficient is the catalyst?

UV-vis spectrophotometry is utilized to measure the relative efficiency of lithium acetate, tetrabutylammonium trifluoroacetate, and triethylamine as catalysts for the conversion of 4-methoxycinnamic acid to 4-methoxy-beta-bromostyrene. In acetonitrile-water as solvent, the efficiency order is lithium acetate > triethylamine > tetrabutylammonium trifluoroacetate. For triethylamine as catalyst, solvent-dependent order is acetonitrile-water > dichloromethane > acetonitrile.

A nitro-hunsdiecker reaction: from unsaturated carboxylic acids to nitrostyrenes and nitroarenes.

[reaction: see text] The nitrodecarboxylation of aromatic alpha,beta-unsaturated carboxylic acids and ring-activated benzoic acids can be achieved using nitric acid (3 equiv) and catalytic AIBN (2 mol %) in MeCN. From the effect of various additives, the nitrodecarboxylation is postulated to involve the generation of an acyloxy radical RCO(2)(*) by a NO(3)(*) radical followed by attack of a NO(2)(*) radical.

Viscoexpression of anterior chamber cysticercus cellulosae.

We report a case of anterior chamber Cysticercus cellulosae that was removed by viscoexpression.

Combined extracapsular cataract extraction with ahmed glaucoma valve implantation in phacomorphic glaucoma.

Purpose: To report a retrospective analysis of a combined procedure of extracapsular cataract extraction (ECCE) with heparin surface modified (HSM) posterior chamber intraocular lens (PCIOL) implantation along with primary Ahmed glaucoma valve (AGV) implantation in an attempt to optimize visual acuity gains and intraocular pressure (IOP) control in patients with phacomorphic glaucoma.

Methods: ECCE with HSM PC IOL and AGV implantation was performed through two separate incisions in 15 patients diagnosed with phacomorphic glaucoma. Postoperative improvement in visual acuity and IOP control were monitored.