Jump Squat is More Related to Sprinting and Jumping Abilities than Olympic Push Press.

The aim of this study was to test the relationships between jump squat (JS) and Olympic push press (OPP) power outputs and performance in sprint, squat jump (SJ), countermovement jump (CMJ) and change of direction (COD) speed tests in elite soccer players. 27 athletes performed a maximum power load test to determine their bar mean propulsive power (MPP) and bar mean propulsive velocity (MPV) in the JS and OPP exercises. Magnitude-based inference was used to compare the exercises. The MPV was almost certainly higher in the OPP than in the JS. The MPP relative to body mass (MPP REL) was possibly higher in the OPP. Only the JS MPP REL presented very large correlations with linear speed (r>0.7, for speed in 5, 10, 20 and 30 m) and vertical jumping abilities (r>0.8, for SJ and CMJ), and moderate correlation with COD speed (r=0.45). Although significant (except for COD), the associations between OPP outcomes and field-based measurements (speed, SJ and CMJ) were all moderate, ranging from 0.40 to 0.48. In a group composed of elite soccer players, the JS exercise is more associated with jumping and sprinting abilities than the OPP. Longitudinal studies are needed to confirm if these strong relationships imply superior training effects in favor of the JS exercise.

Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant.

The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD). A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutropenia, dysgammaglobulinemia, relative and sometimes absolute lymphocytosis. Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies. The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease. On the basis of these unique associations, the Authors hypothesized that autoimmunity may be partly responsible of the severe epileptic symptomatology, perhaps mediated by autoantibodies against sodium channels or by accompanying cytotoxic T-lymphocytes. Corticosteroid treatment ameliorated the epilepsy and laboratory tests. Future studies will be necessary to evaluate the relevance of autoimmunity in SMEI.

Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS).

The authors report on the first case of OAVS (Oculo-Auriculo- Vertebral-Spectrum), with hemifacial microsomy, hydrocephalus, pubertas precox, thelarche at 4 years of age, vaginal bleeding at 5 years, and left ovary of adult type on echography (right ovary initially not visualized). FISH and CGH-ARRAYS methods were negative. By GnRH therapy the delay of onset puberty was obtained. The authors ascribe facial and ovary asymmetry to a derangement of blastogenesis, during which axial right-left structures begin the develop with consequent migration or interation with surrounding tissues of neural crest cells and alteration of diencephalic pituitary systems.

Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome.

Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid) in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM). Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion) anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS.

[Arachnoid cyst, hypoplasic temporal lobe and facial anomalies: a neurocristopathy]. / Cisti aracnoidea, ipoplasia del lobo temporale destro ed anomalie facciali: una neurocristopatia.

The authors report on a patient which presented at birth facial anomalies similar to those of facial alcoholic syndrome (i.e. high forehead, wide nasal bridge, upturned nose, flat philtrum), low set ears, short neck. Successive-ly, also an arachnoid right temporo-polar cyst with hypoplasic right temporal lobe was diagnosed. They think that cerebral cyst, hypoplastic temporal lobe and facial anomalies are congenital. By the origin of facial and leptomeningeal structures from the neural crests, the authors conclude that facial, arachnoid and cerebral anomalies depend from the derangement of the neural crest development and that this complex syndrome is a neurocristopathy which can be ascribed to dysneurulation.

[Serious cerebral malformations (corpus callosum aplasia, prosencephalic cyst), internal carotid canal and facial malformations due to neural crest abnormalities, associated with choleosteatoma]. / Complesse malformazioni cerebrali (aplasia del corpo calloso, cisti prosencefalica), del canale carotico interno e facciali da alterazione delle creste neurali, associate a colesteatoma (operato).

The authors report an original case of malformative spectrum, which includes cerebral (corpus callosum aplasia, prosencephalic cyst) facial, otic and basi-cranial dysplasias associated with cholesteatoma. Cephalic neural crest cells migrate to different regions in the head and neck, where they contribute to the development of mainly the first and second branchial arches and of many structures as the anterior skull base, the face, the ear and the forebrain. Data suggest that the link between these rare malformations is abnormal neural crest development, perhaps due to defective Hh signal.

[Leigh syndrome with facial abnormalities: a neurocristopathy]. / Sindrome di Leigh con anomalie facciali: una neurocristopatia.

A case of Leigh syndrome with respiratory chain defect and facial abnormalities is reported. Because most of the facial skeleton originates from the neural crests, which are strictly connected with the Central Nervous System development, the authors speculate that the facial abnormalities, observed in Leigh syndrome, are dependent on neural crest development disturbances (dysneurulation) and related to neurological features and that Leigh syndrome is a neurocristopathy. In case of facial abnormalities in infancy Leigh syndrome with respiratory chain defect should be investigated.

Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre syndrome with growth hormone deficiency.

The authors report on a patient with mild cranio-facial abnormalities observed at birth and growth hormone deficiency, which later developed a typical Kearns-Sayre syndrome. Facial abnormalities are similar to those reported in the fetal alcohol syndrome (a typical neural crest syndrome). In the authors' opinion, they could be an abnormality of neural crest cell development or migration, due to expression of antenatal oxidative phosphorylation deficiency in neural crest cells or to an interference of defective oxidative phosphorylation with neural crest cells signal(s). On this ground, the Kearns-Sayre syndrome can be considered a neurocristopathy and the studies on this syndrome should take into account those diseases commonly associated with neurocristopathies (i.e. facial, endocrine, osseous, cardiovascular and of peripheral nerve system).

A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block.

The Kearns-Sayre syndrome, (characterized by its onset before the age of 20 years, chronic ophthalmoplegia, pigmentary retinal degeneration and at least one of the following symptoms: ataxia, heart block and high protein content in the cerebrospinal fluid) is a severe variant of chronic progressive external ophthalmoplegia with frequent rearrangements of the mitochondrial DNA (mtDNA). The aim of this paper is to report a sporadic paediatric case of Kearns-Sayre syndrome with mtDNA heteroplasmic deletion, absence of cytochrome c-oxidase in many muscle fibers, autoimmune thyroiditis, complete atrio-ventricular heart block in which the diagnosis of subclinical hypothyroiditis associated with autoimmune thyroid disease was made. The subclinical hypothyroidism, more severe in the presence of thyroid antibodies, may have contributed to the pathogenesis of cardiovascular disease. We hypothesized that in this patient, predisposed by mitochondrial deletion, anti-thyroid antibodies may have interfered with the mitochondrial function of conduction heart system, causing atrio-ventricular heart block. It seems important to study anti-thyroid antibodies in every case of Kearn-Sayre syndrome, specially if cardiac rhythm disturbances are present.

Facial anomalies in patients with cytochrome-c-oxidase (COX) deficiency: a dysneurulation.

The authors report 3 cases of cytochrome-c-oxidase deficiency (2 cases of Kearns-Sayre syndrome and 1 case of chronic progressive external ophthalmoplegia) with Central Nervous System alterations and facial anomalies. The facial anomalies are high forehead, wide nasal bridge, upturned nose, long and flat philtrum (alterations depending on frontal-nasal-premaxillary structures which derive from prosencephalic neural crests), hypoplastic maxilla and mandible, ophthalmoplegia (alterations of maxilla and III-VI cranial nerve nuclei, which derive on the mesencefalic neural crests), low set ears, short neck (alterations of the 3rd, 4th branchial arch derivatives, which arise from rhombencephalic neural crests). The authors conclude that cytochrome-c-oxidase deficiency in embryonic stage can injure, in Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia, distal tissues of face and Central Nervous System depending on neural crests, and that the symptomatology of these diseases can be ascribed to dysneurulation.

Enhanced biofilm-production in pathogens isolated from patients with rare metabolic disorders.

Biofilm-producing bacteria were isolated from the urine of 19 patients with very rare metabolic disorders including: hyperlactacidaemia (8 cases), sugar intolerance and gammopathy (1 case), cystinuria (2 cases), Parkinson's disease (1 case), lipidaemia (2 cases), hyperaminoaciduria (1 case) and others (4 cases). A total of 34 strains were collected, Gram-negative and gram-positive microorganisms were equally distributed among the slime-producing bacteria, with a prevalence of Staphylococcus epidermidis (30%) the most frequent microorganism isolated together with Escherichia coli and Proteus mirabilis that accounted for 15% of this group of strains. A quantitative assay of the biofilm production revealed that in Gram-positive pathogens it was three times greater than that observed in bacteria collected from patients not affected by metabolic diseases (p = 0.0001). In Gram-negative strains the biofilm synthesis was 2.2 times higher than those detected in the same bacteria isolated in the absence of metabolic disorders (p = 0.0033). The results observed indicate that biofilm production is enhanced in bacteria isolated from the urine of patients with metabolic disorders. It is suggested that unusual metabolites might facilitate pathogen production of biofilm found in the urine of these patients.

[Maxillo-facial abnormalities in Kearns-Sayre syndrome]. / Alterazioni maxillo-facciali nella Sindrome di Kearns-Sayre: una neurocristopatia.

Three cases of Kearns-Sayre Syndrome are reported, in which some facial anomalies, including facial asymmetry, high forehead, wide nasal bridge, upturned nose, flat philtrum, low set ears and short neck were present. In two cases, the diagnosis of oxidative phosphorylation deficiency was confirmed by hystoenzymatic and genetic studies. The relationship of these facial anomalies with neural crest maldevelopment is emphasized and a classification of the Kearns-Sayre Syndrome as metabolic neurocristopathy is proposed. The facial anomalies are suggestive of an antenatal expression of the oxidative phosphorylation disease.

[Stickler syndrome: maxillo-facial abnormalities]. / La sindrome di Stickler: anomalie maxillo-facciali.

A case of Stickler syndrome (hereditary arthro-ophthalmo-dystrophy) with maxillo-facial abnormalities and colon atresia is reported. The authors emphasize that in Stickler syndrome, (a chondrodystrophy with congenital alteration of type II collagen) the maxillofacial abnormalities are consecutive to prosencephalic neural crests dysneurulation, which caused mesethmoidal dysneurulation (and consequently of frontonasal-premaxillary structures); eye and colon abnormalities are consecutive to rhombo-mesencephalic neural crests dysneurulation. The Authors hypothesize that genic mutation, responsible of enzymatic deficiency of the neural crest multipotent cells, caused a morphogenetic alteration of the fronto-naso-philtral structures of the midface and of low face structures.