Implants versus autologous tissue flaps for breast reconstruction following mastectomy.

Background: Women who have a mastectomy for breast cancer treatment or risk reduction may be offered different options for breast reconstruction, including use of implants or the woman's own tissue (autologous tissue flaps). The choice of technique depends on factors such as the woman's preferences, breast characteristics, preoperative imaging, comorbidities, smoking habits, prior chest or breast irradiation, and planned adjuvant therapies.

Objectives: To assess the effects of implants versus autologous tissue flaps for postmastectomy breast reconstruction on women's quality of life, satisfaction, and short- and long-term surgical complications.

Incidental Parathyroidectomy After Thyroid Surgery: A Single-Center Study.

Background: Hypoparathyroidism with hypocalcemia is the most frequent complication after thyroid surgery. Many risk factors have been involved in the development of this complication, with conflicting results. Incidental parathyroidectomy (IP) may be a frequent cause of postoperative hypocalcemia.

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of -Related Neurological Disorders.

Hereditary spastic paraplegias are rare genetic disorders characterized by corticospinal tract impairment. Spastic paraplegia 83 (SPG83) is associated with biallelic mutations in the gene, leading to varied severities from neonatal to juvenile onset. The function of HPDL is unclear, though it is speculated to play a role in alternative coenzyme Q10 biosynthesis.

Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.

Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses.

SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.

Objective: Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this rare disease, we identified two unrelated patients with mutations in PRDX3. We explored the impact of PRDX3 mutation in patient skin fibroblasts and the role of the gene in neurodevelopment.

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in : A New Case Report and Review of the Literature.

(MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/children have been described, with a heterogeneous spectrum of clinical manifestations. In the present study, we describe a new patient affected by mild intellectual disability, speech disorder, and non-specific abnormalities on EEG and neuroimaging.

Characterizing collective physical distancing in the U.S. during the first nine months of the COVID-19 pandemic.

The COVID-19 pandemic offers an unprecedented natural experiment providing insights into the emergence of collective behavioral changes of both exogenous (government mandated) and endogenous (spontaneous reaction to infection risks) origin. Here, we characterize collective physical distancing-mobility reductions, minimization of contacts, shortening of contact duration-in response to the COVID-19 pandemic in the pre-vaccine era by analyzing de-identified, privacy-preserving location data for a panel of over 5.5 million anonymized, opted-in U.

-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome).

COVID-19 is linked to changes in the time-space dimension of human mobility.

Socio-economic constructs and urban topology are crucial drivers of human mobility patterns. During the coronavirus disease 2019 pandemic, these patterns were reshaped in their components: the spatial dimension represented by the daily travelled distance, and the temporal dimension expressed as the synchronization time of commuting routines. Here, leveraging location-based data from de-identified mobile phone users, we observed that, during lockdowns restrictions, the decrease of spatial mobility is interwoven with the emergence of asynchronous mobility dynamics.

Spatial immunization to abate disease spreading in transportation hubs.

Proximity social interactions are crucial for infectious diseases transmission. Crowded agglomerations pose serious risk of triggering superspreading events. Locations like transportation hubs (airports and stations) are designed to optimize logistic efficiency, not to reduce crowding, and are characterized by a constant in and out flow of people.

Risk Factors for Hypoparathyroidism after Thyroid Surgery: A Single-Center Study.

Background: Hypoparathyroidism is one of the most common complications after thyroidectomy. This study evaluated the incidence and potential risk factors for postoperative hypoparathyroidism after thyroid surgical procedures in a single high-volume center.

Methods: In this retrospective study, in all patients undergoing thyroid surgery from 2018 to 2021, a 6 h postoperative parathyroid hormone level (PTH) was evaluated.

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this study was to describe a large family with 12 members affected by bipolar disorder.

Living in a pandemic: changes in mobility routines, social activity and adherence to COVID-19 protective measures.

Non-Pharmaceutical Interventions (NPIs), aimed at reducing the diffusion of the COVID-19 pandemic, have dramatically influenced our everyday behaviour. In this work, we study how individuals adapted their daily movements and person-to-person contact patterns over time in response to the NPIs. We leverage longitudinal GPS mobility data of hundreds of thousands of anonymous individuals to empirically show and quantify the dramatic disruption in people's mobility habits and social behaviour.

Abdominal wall complications after kidney transplantation: A clinical review.

Introduction: Abdominal wall complications are common after kidney transplantation, and although they have a minor impact on patient and graft survival, they increase the patient's morbidity and may have an impact on quality of life. Abdominal wall complications have an overall incidence of 7.7-21%.

Risk Factors for Low Levels of Parathyroid Hormone after Surgery for Thyroid Cancer: A Single Center Study.

Background: Thyroidectomy is the definitive treatment for most patients with thyroid cancer. Hypoparathyroidism is the most frequent complication of thyroidectomy, and its pathogenesis is multifactorial. The aim of this study is to evaluate the patient- and surgical-related risk factors for hypoparathyroidism after surgery for thyroid cancer.

13q Deletion Syndrome Involving : Characterization of a New Minimal Critical Region for Psychomotor Delay.

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms.

Forensic Post-Mortem Investigation in AAS Abusers: Investigative Diagnostic Protocol. A Systematic Review.

Anabolic-androgenic steroids (AASs) are a group of synthetic molecules derived from testosterone and its precursors. AASs are widely used illicitly by adolescents and athletes, especially by bodybuilders; AASs are among the most used drugs for improving physical performance, as well as for aesthetic purposes. The use of AASs by professional and recreational athletes is increasing worldwide.

Colorectal Cancer after Kidney Transplantation: A Screening Colonoscopy Case-Control Study.

The incidence of colorectal cancer in kidney transplant recipients has been previously reported with conflicting results. In this study, we investigated if the incidence of colorectal advanced neoplasms in kidney transplant recipients, evaluated with screening colonoscopy, was higher than in healthy individuals. One-hundred sixty kidney transplant recipients undergoing screening colonoscopy were compared with 594 age- and sex-matched healthy individuals.

Socio-economic determinants of mobility responses during the first wave of COVID-19 in Italy: from provinces to neighbourhoods.

After more than 1 year into the COVID-19 pandemic, governments worldwide still face the challenge of adopting non-pharmaceutical interventions to mitigate the risks posed by the emergence of new SARS-CoV-2 variants and the lack of a worldwide equitable vaccine allocation. Thus, it becomes crucial to identify the drivers of mobility responses to mitigation efforts during different restriction regimes, for planning interventions that are both economically and socially sustainable while effective in controlling an outbreak. Here, using anonymous and privacy-enhanced cell phone data from Italy, we investigate the determinants of spatial variations of reductions in mobility and co-location in response to the adoption and the lift of restrictions, considering both provinces and city neighbourhoods.

Quality of Life and Mental Health in Kidney Transplant Recipients During the COVID-19 Pandemic.

The COVID-19 pandemic has led to an increase in mental distress such as phobic anxieties, depressive reactions, hypochondriac concerns, and insomnia. Among the causes are risk of infection and prolonged isolation. This study aimed to analyze psychopathological variables and dysfunctional lifestyles related to adequate therapeutic compliance in kidney transplant recipients.

Nipple Sparing Mastectomy as a Risk-Reducing Procedure for BRCA-Mutated Patients.

Growing numbers of asymptomatic women who become aware of carrying a breast cancer gene mutation (BRCA) mutation are choosing to undergo risk-reducing bilateral mastectomies with immediate breast reconstruction. We reviewed the literature with the aim of assessing the oncological safety of nipple-sparing mastectomy (NSM) as a risk-reduction procedure in BRCA-mutated patients. Nine studies reporting on the incidence of primary breast cancer post NSM in asymptomatic BRCA mutated patients undergoing risk-reducing bilateral procedures met the inclusion criteria.

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2-related ID a wide phenotypic diversity has been described in Rett syndrome (RTT).

Gastrointestinal complications after kidney transplantation.

Gastrointestinal complications are common after renal transplantation, and they have a wide clinical spectrum, varying from diarrhoea to post-transplant inflammatory bowel disease (IBD). Chronic immunosuppression may increase the risk of post-transplant infection and medication-related injury and may also be responsible for IBD in kidney transplant re-cipients despite immunosuppression. Differentiating the various forms of post-transplant colitis is challenging, since most have similar clinical and histological features.