Natural history of three late-diagnosed classic Galactosemia patients.

The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

An increasing number of women with urea cycle disorders (UCDs) are reaching child-bearing age and becoming pregnant. Improved diagnostics and increased awareness of inherited metabolic diseases has also led to more previously undetected women being diagnosed with a UCD during or shortly after pregnancy. Pregnancy increases the risk of acute metabolic decompensation with hyperammonemia-which can occur in any trimester, and/or the postpartum period, and may lead to encephalopathy, psychosis, coma, and even death, if not diagnosed promptly and treated appropriately.

Robot-assisted retroperitoneal lymphadenectomy (RPLND): video case report.

Introduction And Objective:: Germ cell tumors account for 90 to 95% of all testicular tumors. Approximately one-half of these cases are seminomas, and the other half constitutes non-seminomatous germ cell tumors (NSGCTs). The standard of care for men with more advanced or disseminated NSGCTs (stage IIB or higher) is to administer chemotherapy.

Robotic parastomal hernia repair.

Introduction And Objective:: Annually, more than one hundred thousand new stomas are created in the United States and near 30-50% of those will develop parastomal hernia ( 1 ). Occasionally parastomal hernias may result in life threatening complications such as bowel obstruction or strangulation requiring urgent surgical intervention ( 2 ). The minimally invasive surgery for these hernias are preferred, specially when the primary case was either laparoscopic or robot-assisted.

Laparoscopic Treatment of Ureteral Endometriosis: A Systematic Review.

Objective: To review the literature for the preoperative clinical characteristics, surgical findings, and outcomes of patients who underwent laparoscopic surgical treatment of ureteral endometriosis (UE).

Data Sources: A systematic search was performed in the PubMed and Scopus databases.

Methods Of Study Selection: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, studies in English language that assessed UE treated surgically by laparoscopy published between 2008 and 2020 were selected.

A sestrin-dependent Erk-Jnk-p38 MAPK activation complex inhibits immunity during aging.

Mitogen-activated protein kinases (MAPKs) including Erk, Jnk and p38 regulate diverse cellular functions and are thought to be controlled by independent upstream activation cascades. Here we show that the sestrins bind to and coordinate simultaneous Erk, Jnk and p38 MAPK activation in T lymphocytes within a new immune-inhibitory complex (sestrin-MAPK activation complex (sMAC)). Whereas sestrin ablation resulted in broad reconstitution of immune function in stressed T cells, inhibition of individual MAPKs allowed only partial functional recovery.

Peripheral blood CD4/CD25 regulatory T cells in alcoholic patients with Strongyloides stercoralis infection.

An increased number of regulatory T (Treg) cells has been reported in patients with HTLV-1 and Strongyloides stercoralis co-infection, suggesting the contribution of these cells to worm survival. As Strongyloides infections have been found to be highly prevalent in chronic alcoholics, we investigated the effect of abusive ethanol ingestion on the induction of Treg cells in alcoholic patients with Strongyloides infection. Treg cells were assessed by flow cytometry in the peripheral blood of 12 healthy non-alcoholic (control) and 14 alcoholic patients (alcoholic) without Strongyloides infection and five non-alcoholics (controlSs) and five chronic alcoholics (alcoholSs) with Strongyloides infection.

Efficacy of intranasal LaAg vaccine against Leishmania amazonensis infection in partially resistant C57Bl/6 mice.

Background: We have previously demonstrated that intranasal vaccination of highly susceptible BALB/c mice with whole Leishmania amazonensis antigens (LaAg) leads to protection against murine cutaneous leishmaniasis. Here, we evaluate the response of partially resistant C57BL/6 mice to vaccination as a more representative experimental model of human cutaneous leishmaniasis.

Methods: C57BL/6 mice from different animal facilities were infected with L.

Diet-induced obesity promotes systemic inflammation and increased susceptibility to murine visceral leishmaniasis.

Obesity is the main causal factor for metabolic syndrome and chronic systemic inflammation, which impacts on immune function and increases susceptibility to pathogens. Here, we investigated the effect of obesity on the outcome of visceral leishmaniasis caused by Leishmaniasis infantum chagasi. C57BL/6 mice fed with high-sugar and butter diet (HSB) showed a significant increase in body weight, adiposity index and morphological changes in adipocyte.

Intranasal vaccination with adjuvant-free S. aureus antigens effectively protects mice against experimental sepsis.

Staphylococcus aureus (S. aureus) is a Gram-positive coccal bacterium comprising part of the human skin, nares and gastrointestinal tract normal microbiota. It is also an important cause of nosocomial/community-acquired infections in humans and animals, which can cause a diverse array of infections, including sepsis, which is a progressive systemic inflammation response syndrome that is frequently fatal.

Intranasal vaccination with killed Leishmania amazonensis promastigotes antigen (LaAg) associated with CAF01 adjuvant induces partial protection in BALB/c mice challenged with Leishmania (infantum) chagasi.

The CAF01 adjuvant has previously been shown to be safe for human use and to be a potent adjuvant for several vaccine antigens. In the present work, we sought to optimize the Leishmania amazonensis antigens (LaAg) intranasal vaccine in an attempt to enhance the protective immune responses against Leishmania (infantum) chagasi by using the CAF01 association. LaAg/CAF01 vaccinated mice that were challenged 15 days after booster dose with L.

The stepwise selection for ketoconazole resistance induces upregulation of C14-demethylase (CYP51) in Leishmania amazonensis.

Ketoconazole is a clinically safe antifungal agent that also inhibits the growth of Leishmania spp. A study was undertaken to determine whether Leishmania parasites are prone to becoming resistant to ketoconazole by upregulating C14-demethylase after stepwise pharmacological pressure. Leishmania amazonensis promastigotes [inhibitory concentration (IC)₅₀ = 2 µM] were subjected to stepwise selection with ketoconazole and two resistant lines were obtained, La8 (IC₅₀ = 8 µM) and La10 (IC₅₀ = 10 µM).

MyD88-dependent TLR1/2 signals educate dendritic cells with gut-specific imprinting properties.

Gut-associated dendritic cells (DC) synthesize all-trans retinoic acid, which is required for inducing gut-tropic lymphocytes. Gut-associated DC from MyD88(-/-) mice, which lack most TLR signals, expressed low levels of retinal dehydrogenases (critical enzymes for all-trans retinoic acid biosynthesis) and were significantly impaired in their ability to induce gut-homing T cells. Pretreatment of extraintestinal DC with a TLR1/2 agonist was sufficient to induce retinal dehydrogenases and to confer these DC with the capacity to induce gut-homing lymphocytes via a mechanism dependent on MyD88 and JNK/MAPK.

MyD88 and retinoic acid signaling pathways interact to modulate gastrointestinal activities of dendritic cells.

Background & Aims: Gut-associated dendritic cells (DC) metabolize vitamin A into all-trans retinoic acid (RA), which is required to induce lymphocytes to localize to the gastrointestinal tract and promotes the differentiation of Foxp3+ regulatory T cells and IgA antibody-secreting cells. We investigated whether RA functions in a positive-feedback loop in DC to induce its own synthesis.

Methods: We measured levels of retinoids in intestinal tissues from mice and assessed the role of RA in the functional specialization of gut-associated DC in cell cultures and mice.

Successful vaccination against Leishmania chagasi infection in BALB/c mice with freeze-thawed Leishmania antigen and Corynebacterium parvum.

This study evaluated the potential of a Leishmania antigen vaccine in protecting BALB/c mice against Leishmania chagasi. Mice received two subcutaneous doses of L. amazonensis vaccine with Corynebacterium parvum and subsequent boost was done without adjuvant.

Oligopeptidase B from L. amazonensis: molecular cloning, gene expression analysis and molecular model.

Serine oligopeptidases of trypanosomatids are emerging as important virulence factors and therapeutic targets in trypanosome infections. A complete open reading frame of oligopeptidase B from Leishmania amazonensis was amplified with polymerase chain reaction with gradient annealing temperatures using primers designed for the oligopeptidase B gene from L. major.

Intranasal delivery of naked DNA encoding the LACK antigen leads to protective immunity against visceral leishmaniasis in mice.

We previously showed that intranasal (i.n.) vaccination with pCIneo plasmid encoding the leishmanial LACK gene (pCIneo-LACK) induces long-lasting protective immunity against cutaneous leishmaniasis in mice.

Intramuscular immunization with p36(LACK) DNA vaccine induces IFN-gamma production but does not protect BALB/c mice against Leishmania chagasi intravenous challenge.

Acute visceral leishmaniasis is a progressive disease caused by Leishmania chagasi in South America. The acquisition of immunity following infection suggests that vaccination is a feasible approach to protect against this disease. Since Leishmania homologue of receptors for activated C kinase (LACK) antigen is of particular interest as a vaccine candidate because of the prominent role it plays in the pathogenesis of experimental Leishmania major infection, we evaluated the potential of a p36(LACK) DNA vaccine in protecting BALB/c mice challenged with L.