Moving Buffalo Farming beyond Traditional Areas: Performances of Animals, and Quality of Mozzarella and Forages

An observational case study was designed to highlight issues associated with a possible expansion of dairy buffalo (Bubalus bubalis) farming outside the traditional coastal plains of southern Italy. Twenty pregnant buffaloes were transferred to a hilly inland farm. After calving, production and reproduction data were collected monthly throughout lactation. From 4 to 6 months of lactation, buffaloes were enrolled in a feeding trial to evaluate the effects of locally grown forages (maize silage vs. hay) on milk production and in vivo digestibility. Sensory properties of mozzarella cheese produced at a local dairy were also evaluated. No obvious effects of diet were found. Compared to the data recorded in the previous lactation completed in the farm of origin, milk yield was reduced by 37.2%, and milk protein by 6.1%, whereas milk fat improved (+4.5%). A lower pregnancy rate (−13.3%), increased days open (+122%), and a prolonged intercalving period (+26.9%) were also observed. Lactation length was shorter than the standard value of 270 d. The results showed that peculiar reproductive characteristics, lower environmental temperatures, and the specificity of the mozzarella production process are the main problems to be addressed in an expansion of buffalo farming outside traditional area

Evaluation of S-RBD and high specificity ACE-2-binding antibodies on SARS-CoV-2 patients after six months from infection

The antibody response to SARS-CoV-2 has not yet fully defined, but the availability of sensitive and specific serological assays is crucial to observe the presence of specific antibodies against the human receptor binding domain (S-RBD) and high specificity ACE-2-binding antibodies or neutralizing antibodies (NT) in response to vaccines. Indeed, these peculiar antibodies should prevent viral interaction between RBD and AngiotensinConverting Enzyme 2 (ACE2) receptor, located on surface of host cells. In this study, 72 samples from 37 hospitalized COVID-19 patients and 35 not-hospitalized patients were analyzed longitudinally. The detection of SRBD and NT antibodies was carried out using CLIA tests. Hospitalized patients showed elevated serum levels of S-RBD (97.22%) and NT (77.78%) antibodies, differently, not-hospitalized, who were paucisymptomatic or asymptomatic patients, showed lower serum levels of SRBD (65.71%) and NT (38.14%) antibodies. The results suggest that the NT serum level is strongly related to disease severity (p < 0.001) and to the serum level of S-RBD antibodies (p < 0.0001)

Barber-Say/Ablepharon-Macrostomia : Patient’s View

Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves

Intra-atrial Re-entrant Tachycardia with Wenckebach Periodicity

A 15-year-old girl, previously asymptomatic for palpitations, underwent a successful atrial septal defect (ASD) device closure. Twelve weeks after the procedure, the patient was admitted complaining of dyspnoea on effort and palpitations. The twelve-lead ECG showed a narrow QRS tachycardia with slight heart rate irregularity, with a mean HR of 170bpm. P waves were not clearly identified with a suspicious of negative P-waves in II, III and aVF leads. No clear relationship could be observed between the suspected P waves and QRS complexe

Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype

Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with QT interval prolongation on ECG, syncope, torsade de pointes and sudden cardiac death in young patients. Heritable LQTS is classified in 12 types depending on mutations in a specific gene. In most cases, the mutations involve the genes encoding a-subunits of repolarizing K+ channels (KCNQ1 and KCNH2). Prolongation of the QT interval and action potential duration is associated with the decrease of outward K+ current in cardiomyocytes. The screening for LQTS causing mutations in a family from South Italy revealed two mutations in two genes: c.G1748A (p.R583H) in KCNQ1 and c.G323A (p.C108Y) in KCNH2. Interestingly, all subjects carrying just one of these two mutations did not show the LQT phenotype, whereas the only two subjects carrying both were clinically affected (QTc > 530ms). To analyze the genotype-phenotype association and to shed light on the pathogenetic defects responsible for these LQTS cases we characterized the biophysical features of the two mutant channels. We generated the KCNQ1 and KCNH2 mutants by site-directed mutagenesis. Each mutant was transiently expressed in CHO cells and functionally characterized by whole-cell patch clamp recordings. The biophysical studies showed that in the homozygous condition, mutation c.G323A led to a nonfunctional KCNH2 channel, whereas, in the heterozygous condition, mutant KCNH2 had significantly reduced current density at positive potentials and a negative shift in the voltage dependence of activation compared to the wild type. Furthermore, mutant KCNQ1-p.R583H had significantly reduced tail current density compared to the wild-type channel, but no significant changes in activating current density and voltage-dependence of activation. In conclusion, our results demonstrate that mutation KCNH2-p.C108Y induced a dominant negative effect in the heterozygous condition. Moreover, both KCNH2-p.C108Y and KCNQ1-p.R583H had some biophysical defects that could be combined and lead to the LQTS phenotype, as observed in the pedigree of the family reported herein

Gender differences and role of pregnancy in the history of post-surgical women affected by tetralogy of Fallot.

BACKGROUND: The aim of this study was to describe gender differences in patients operated on for TOF and to define the impact of pregnancy in late post-surgical follow-up in women. METHODS: In this research, we studied 145 patients after correction of TOF: 66 male, 79 women, 41 of which reported history of 68 pregnancies, means age 37±10 years, age at operation 7±8 years, mean duration of post-surgical follow-up 30±7 years. Selected variables were compared according to sex and according to history of pregnancy with statistical tests. RESULTS: Men had more severe hemodynamic impairment and a higher number of cardiac reoperations than females. 41% of patients had at least one complication during pregnancy; there were 16 (67%) abortions and 39 (74%) Caesarian delivers; the recurrence of congenital heart defect was 10%. After pregnancy, there was a shift from first to second functional class: unique pregnancy determined no differences in term of morpho-functional ventricular features compared to nulliparous, but they complained fatigue and palpitation and echocardiographyc dysfunction. Left ventricular dysfunction and QRS duration at ECG were independent predictors of ventricular arrhythmias in all patients. CONCLUSIONS: There were no gender-specific differences in patients operated on for TOF using ventriculotomy. Pregnancy is an event in these patients at risk for the newborn, in terms of miscarriage, prematurity, and recurrence of birth defects, and for the mother in terms of ventricular dysfunction and electrical instability. At least a single pregnancy does not appear to significantly modify the natural history of post-surgical patients operated on for TOF

Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones

Congenital long-QT syndrome (LQTS) and Brugada syndrome (BrS) are cardiac channelopathies caused by mutations in cardiac ion channel genes. LQTS is characterized by excitability and prolonged repolarization, abnormal T wave morphology, and cardiac arrhythmias; in BrS it is observed ST segment elevation, right bundle branch block and susceptibility to ventricular tachyarrhythmia during rest or sleep. Supraventricular tachyarrhythmias are common finding in both patients. LQTS is caused by mutations in KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes; BrS is caused, in 10-20% of cases, by mutations in SCN5A gene. We determined the spectrum of cardiac channel mutations in a cohort of unrelated Southern Italy. We screened KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes FOR 26 unrelated LQTS patients and only SCN5A gene for 30 unrelated BrS patients. To screen, we use the PCR, dHPLC and DNA sequencing. We than expressed in HEK 293 cells, 5 unknown variants SCN5A: c.T1808C, c.G3964T, c.C3989A and c.4414_4416delAAC (LQTS) and c.G2284A (BrS). The FITC-antibody was used to locate these mutants. We found 19 disease-causing mutations in the 26 unrelated LQTS families (73%): c.G5349A in SCN5A in 3 patients, c.C1682T and c.T2414C in KCNH2, and c.C691T, c.A842G, c.T910C, c.G1032A, c.G1573A and c.G1748A in KCNQ1, which are known mutations; c.T1808C, c.4414_4416delAAC, c.G3964T, and c.C3989A in SCN5A, c.G323A and c.1450_1467del in KCNH2, c.824_826delTCt in KCNQ1 and c.C29T in KCNE1, which are novel mutations. In the 30 BrS patients we found e mutations in SCN5A: c.C647T and c.C1099T which are known mutations, and c.G2284A, an unknown mutation. All mutations co-segregated with the disease in the affected families. Immunocytochemistry showed that all variants are located to the cell surface. Functional characterization of these variants is underway using the voltage-clamp technique. About 73% of our LQTS patients had a mutation: about half of the mutations are novel; 10% of our BrS patients shows a mutation in SCN5A. Screening of cardiac ion channel genes may: i) facilitate causative analysis at gene level in LQTS patients, and ii) identify carriers of gene mutations with reduced penetrance, thereby reducing the risk of sudden death

Efficacy of pharmacological treatment and genetic characterization in early diagnosed patients affected by long QT syndrome with impaired AV conduction.

The coexistence of QT prolongation and impaired atrioventricular (AV) conduction with torsade de pointes ventricular tachycardia (TdPVT) is a rare malignant variant of the long QT syndrome (LQTS). The purpose of this study was to examine the clinical presentation, the genetic background and the outcome of a cohort of 7 unrelated patients (4M/3F), all medically treated, affected by LQTS and impaired AV conduction. The possibility of treating this very severe form of LQTS pharmacologically overcomes the significant disadvantages of ICD implantation in young infants, namely, implantation difficulties, prolonged ICD protection with a consequent greater incidence of inappropriate shocks, and potentially more severe psychological problems. Furthermore, genetic familial analysis may indicate treatment in high-risk but yet asymptomatic children

Allelic Complexity in Long QT Syndrome: A Family-Case Study

Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants. We identified four genetic variants (KCNQ1-p.R583H, KCNH2-p.C108Y, KCNH2-p.K897T, and KCNE1-p.G38S) in an LQTS family. On the basis of in silico analysis, clinical data from our family, and the evidence from previous studies, we analyzed two mutated channels, KCNQ1-p.R583H and KCNH2-p.C108Y, using the whole-cell patch clamp technique. We found that KCNQ1-p.R583H was not associated with a severe functional impairment, whereas KCNH2-p.C108Y, a novel variant, encoded a non-functional channel that exerts dominant-negative effects on the wild-type. Notably, the common variants KCNH2-p.K897T and KCNE1-p.G38S were previously reported to produce more severe phenotypes when combined with disease-causing alleles. Our results indicate that the novel KCNH2-C108Y variant can be a pathogenic LQTS mutation, whereas KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers