KID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment.

Background: Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis characterized by keratitis, neurosensorial auditory impairment and ichthyosiform skin involvement. Frequent complications of the syndrome are chronic, opportunistic cutaneous infections, and the development of skin cancers. Several cases of association between KID syndrome and other conditions, including hidradenitis suppurativa (HS), are described in the literature.

Modulation of gene expression in rat muscle cells following treatment with nanoceria in different gravity regimes.

Aim: Oxidative stress (OS) is strictly associated with senescence/pathogenesis of biological systems. As putative countermeasure to environmental OS, cerium oxide nanoparticles (nanoceria [NC]) were administered to muscle cells on ground and aboard the International Space Station.

Materials & Methods: Transcriptional analyses were conducted through microarray technology and hierarchical clustering.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Background: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes.

Remote Control of Cellular Functions: The Role of Smart Nanomaterials in the Medicine of the Future.

The remote control of cellular functions through smart nanomaterials represents a biomanipulation approach with unprecedented potential applications in many fields of medicine, ranging from cancer therapy to tissue engineering. By actively responding to external stimuli, smart nanomaterials act as real nanotransducers able to mediate and/or convert different forms of energy into both physical and chemical cues, fostering specific cell behaviors. This report describes those classes of nanomaterials that have mostly paved the way to a "wireless" control of biological phenomena, focusing the discussion on some examples close to the clinical practice.

Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance.

Aim: Owing to their catalytic properties as reactive oxygen species scavengers, cerium oxide nanoparticles (nanoceria) have become an extremely promising candidate for medical applications, especially in the treatment of diseases where oxidative stress has been proposed as one of the main pathogenesis factors.

Materials & Methods: In this work, nanoceria antioxidant power has been tested in primary cultured skin fibroblasts, derived from healthy individuals, by evaluating the mitochondrial function both in basal condition and after an oxidative insult.

Results & Conclusion: Combined with a clear lack of toxicity, antioxidant activity makes nanoceria promising in a wide range of clinical applications sharing the common signature of a global bioenergetic dysfunction.

Mitochondria and neurodegenerative diseases: the promising role of nanotechnology in targeted drug delivery.

Neurodegenerative diseases (NDs) represent a group of different clinical entities that, despite the specific primary etiologies, share a common signature in terms of a general mitochondrial dysfunction with consequent oxidative stress accumulation. As these two events occur early during neurodegenerative process, they could be considered ideal therapeutic targets. Areas covered: This review describes the nanotechnologies explored for the specific targeted delivery of drugs, in order to precisely direct molecules into the intended site, where they can practice their therapeutic effects.

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement.

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

Mutations in the ganglioside-induced differentiation associated-protein 1 (GDAP1) gene have been associated with both autosomal recessive (AR) and dominant (AD) Charcot-Marie-Tooth (CMT) axonal neuropathy. The relative frequency of heterozygous, dominant mutations in Italian CMT is unknown. We investigated the frequency of dominant mutations in GDAP1 in a cohort of 109 axonal Italian patients by sequencing genomic DNA and search for copy number variations.

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

We describe the case of a woman in whom combination of a mitochondrial (MT-CYB) and a nuclear (SDHB) mutation was associated with clinical and metabolic features suggestive of a mitochondrial disorder. The mutations impaired overall energy metabolism in the patient's muscle and fibroblasts and increased cellular susceptibility to oxidative stress. To clarify the contribution of each mutation to the phenotype, mutant yeast strains were generated.

Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.

Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous neurological symptoms such as psychomotor delay, seizures, intellectual disability and it is characterized by increased urinary excretion of N-acetylated amino acids. We report on a new patient who presented ACY1 deficiency in association with isolated mild intellectual disability, but neither neurological symptoms nor autistic features. The child showed a compound heterozygous mutation (p.

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation.

Contribution of copy number variations in CMT1X: a retrospective study.

Background And Purpose: Charcot-Marie-Tooth disease type 1X (CMT1X) is an X-linked dominant hereditary motor-sensory peripheral neuropathy, which results from mutations in the Gap Junction B1 (GJB1) gene. In a few cases, gene deletions have been linked to the disease, but their relative contribution in the pathogenesis of CMT1X has not been assessed yet. Herein a retrospective study to establish the incidence of gene deletions is described.

Syndromes associated with mitochondrial DNA depletion.

Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two.

Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls.

Aims: We screened 378 late-onset Alzheimer's disease (LOAD) patients and 308 matched controls for the presence of the common MTHFR 677C>T, MTRR 66A>G, MTR 2756 A>G, and TYMS 28 bp repeat polymorphisms, searching for association with disease risk and age at onset. Moreover, we searched for correlation between each of the studied polymorphisms and available data on plasma homocysteine (Hcy), serum folate, and vitamin B12 values.

Results: We observed a significant increased frequency of the MTHFR 677T allele (0.

Desmoplastic melanoma of the nail.

Desmoplastic melanoma represents a variant of melanoma that is difficult to diagnose because 71% of patients have amelanotic skin lesions. In the acral region of the limbs, the clinical diagnosis is more difficult, especially in cases in which there are not clear, rapidly growing, pigmented nail streaks. Histopathological identification of desmoplastic melanoma is confusing because of the intense fibrous reaction in the dermis and minimal, atypical melanocytic proliferation at the dermal-epidermal junction.

[The use of autologous dermis in the treatment of incisional hernia].

Incisional hernia is a relatively frequent complication of laparotomy. In reconstruction of large abdominal wall defects prosthetic meshes have come to play a leading role. However, they carry a high risk of infection and are poorly effective in restoring perfect chest-wall function.

[A case of a midline cervical cyst].

Midline cervical cysts are one of the most common embryological anomalies of the neck. They are due to the failure of a complete obliteration of the thyroglossal duct. This endodermal structure arises from the floor of the mouth and proceeds caudally in the midline of the neck until it reaches its final position around the trachea.