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1.
Swiss Med Wkly ; 154: 3729, 2024 04 01.
Article in English | MEDLINE | ID: mdl-38642364

ABSTRACT

AIMS: Patients undergoing emergency general surgery are at high risk of complications and death. Our objectives were to estimate the incidence of emergency general surgery in a Swiss University Hospital, to describe the characteristics and outcomes of patients undergoing such procedures, and to study the impact of age on clinical outcomes. METHODS: This was a retrospective cohort study of adult patients who visited the emergency department (ED) of Geneva University Hospitals between January 2015 and December 2019. Routinely collected data were extracted from electronic medical records. The primary outcome was the incidence of emergency general surgery among patients visiting the emergency department, defined as general surgery within three days of emergency department admission. We also assessed demographic characteristics, mortality, intensive care unit admission and patient disposition. Multivariable log-binomial regression was used to study the associations of age with intensive care unit (ICU) admission, one-year mortality and dependence at discharge. Age was modelled as a continuous variable using restricted cubic splines and we compared older patients (75th percentile) with younger patients (25th percentile). RESULTS: Between January 2015 and December 2019, a total of 310,914 emergency department visits met our inclusion criteria. Among them, 3592 patients underwent emergency general surgery within 3 days of emergency department admission, yielding an annual incidence of 116 events per 10,000 emergency department visits (95% CI: 112-119), with a higher incidence in females and young patients. Overall, 5.3% of patients were admitted to ICU, 7.8% were dependent on rehabilitation or assisted living at discharge and 4.8% were dead after one year. Older patients had a higher risk of ICU admission (adjusted risk ratio (aRR) 2.9 [1.5-5.4]), dependence at discharge (aRR 15.3 [5.5-42.4]) and one-year mortality (aRR 5.4 [2.2-13.4]). CONCLUSION: Emergency department visits resulting in emergency general surgery are frequent, but their incidence decreases with patient age. Mortality, ICU admission and dependence at discharge following emergency general surgery are more frequent in older patients. Taking into account the increased risk for older patients, a shared process is appropriate for making more informed decisions about their options for care.


Subject(s)
Acute Care Surgery , Hospitalization , Adult , Female , Humans , Aged , Retrospective Studies , Incidence , Emergency Service, Hospital , Intensive Care Units , Hospital Mortality
2.
Am J Hematol ; 99(1): 48-56, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37853951

ABSTRACT

ZAP70 has a prognostic value in chronic lymphocytic leukemia (CLL), through altered B-cell receptor signaling, which is important in CLL pathogenesis. A good correlation between ZAP70 expression in CLL cells and the occurrence of autoimmune phenomena has been reported. Yet, the great majority of CLL-associated autoimmune cytopenia is due to polyclonal immunoglobulin (Ig) G synthesized by nonmalignant B cells, and this phenomenon is poorly understood. Here, we show, using flow cytometry, that a substantial percentage of CD5- nonmalignant B cells from CLL patients expresses ZAP70 compared with CD5- B cells from healthy subjects. This ZAP70 expression in normal B cells from CLL patients was also evidenced by the detection of ZAP70 mRNA at single-cell level with polyclonal Ig heavy- and light-chain gene transcripts. ZAP70+ normal B cells belong to various B-cell subsets and their presence in the naïve B-cell subset suggests that ZAP70 expression may occur during early B-cell development in CLL patients and potentially before malignant transformation. The presence of ZAP70+ normal B cells is associated with autoimmune cytopenia in CLL patients in our cohort of patients, and recombinant antibodies produced from these ZAP70+ nonmalignant B cells were frequently autoreactive including anti-platelet reactivity. These results provide a better understanding of the implication of ZAP70 in CLL leukemogenesis and the mechanisms of autoimmune complications of CLL.


Subject(s)
Leukemia, Lymphocytic, Chronic, B-Cell , Humans , Autoimmunity , B-Lymphocytes , Flow Cytometry , Prognosis , ZAP-70 Protein-Tyrosine Kinase/genetics , ZAP-70 Protein-Tyrosine Kinase/metabolism
3.
Am J Case Rep ; 24: e941649, 2023 Nov 29.
Article in English | MEDLINE | ID: mdl-38018032

ABSTRACT

BACKGROUND Amyand hernia is a rare condition described as the presence of the appendix within an inguinal hernia. The clinical presentation of can be atypical, depending on the length of the defect's history and the size of the hernia. As inguinal hernia repair is considered a routine surgical procedure, giant hernias are mostly encountered in countries with limited medical care or with patient rejection of surgical management. CASE REPORT We report a case of a 56-year-old patient with a history of a chronic giant inguinal-scrotal hernia for more than 10 years who presented himself to the Emergency Department with acute pain in the scrotum and fever. Computed tomography revealed a perforated appendicitis located in the inferior part of the scrotum. The patient underwent a surgical procedure with an inguinal and middle laparotomy approach, revealing a full incarceration of the right and traverse colon, terminal ileal loop, and omentum, along with evidence of a perforated appendicitis. Standard appendectomy and direct hernia repair were successfully performed. CONCLUSIONS To the best of our knowledge, this is the first case of a perforated appendicitis within a right giant inguinal hernia described in the modern English-language literature. Rare in our daily practice, giant hernias are a real challenge regarding their surgical management during and after surgery, making this case with a perforated appendicitis even more arduous.


Subject(s)
Appendicitis , Appendix , Hernia, Inguinal , Male , Humans , Middle Aged , Appendicitis/complications , Appendicitis/diagnostic imaging , Appendicitis/surgery , Hernia, Inguinal/complications , Hernia, Inguinal/surgery , Appendectomy , Scrotum
4.
Plast Reconstr Surg Glob Open ; 11(9): e5297, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37790140

ABSTRACT

Abdominoplasty and its different approaches have been widely described to improve abdominal wall contour. However, the role of reverse abdominoplasty, a less commonly performed technique, and its indications are not fully understood. Recent advances in the understanding of the vascular supply to the anterior abdominal wall have made this technique more popular, but there is still limited information available in the literature. In this report, we present the case of a 52-year-old woman who underwent a reverse abdominoplasty using an existing subcostal scar from a previous nephrectomy. No surgical complications were observed, and the patient achieved both aesthetic and functional improvement after 6 months of follow-up. Reverse abdominoplasty can be a reliable option for maintaining adequate blood supply and achieving a satisfactory cosmetic result in cases where there is a pre-existing subcostal scar.

5.
Blood Adv ; 7(20): 6163-6177, 2023 Oct 24.
Article in English | MEDLINE | ID: mdl-37389831

ABSTRACT

Linking the genetic background of patients with bleeding diathesis and altered platelet function remains challenging. We aimed to assess how a multiparameter microspot-based measurement of thrombus formation under flow can help identify patients with a platelet bleeding disorder. For this purpose, we studied 16 patients presenting with bleeding and/or albinism and suspected platelet dysfunction and 15 relatives. Genotyping of patients revealed a novel biallelic pathogenic variant in RASGRP2 (splice site c.240-1G>A), abrogating CalDAG-GEFI expression, compound heterozygosity (c.537del, c.571A>T) in P2RY12, affecting P2Y12 signaling, and heterozygous variants of unknown significance in the P2RY12 and HPS3 genes. Other patients were confirmed to have Hermansky-Pudlak syndrome type 1 or 3. In 5 patients, no genetic variant was found. Platelet functions were assessed via routine laboratory measurements. Blood samples from all subjects and day controls were screened for blood cell counts and microfluidic outcomes on 6 surfaces (48 parameters) in comparison with those of a reference cohort of healthy subjects. Differential analysis of the microfluidic data showed that the key parameters of thrombus formation were compromised in the 16 index patients. Principal component analysis revealed separate clusters of patients vs heterozygous family members and control subjects. Clusters were further segregated based on inclusion of hematologic values and laboratory measurements. Subject ranking indicated an overall impairment in thrombus formation in patients carrying a (likely) pathogenic variant of the genes but not in asymptomatic relatives. Taken together, our results indicate the advantages of testing for multiparametric thrombus formation in this patient population.

6.
Colorectal Dis ; 25(7): 1523-1528, 2023 07.
Article in English | MEDLINE | ID: mdl-37161645

ABSTRACT

AIM: This paper describes a robotic approach to combined gastrointestinal continuity restoration and complex abdominal wall reconstruction after Hartmann's procedure complicated by large midline and parastomal hernias. METHODS: A robotic Hartmann reversal is performed, followed by robotic retromuscular abdominal wall reconstruction of all ventral defects with bilateral posterior component separation using the double-docking approach. Surgical steps are thoroughly described, and the accompanying video highlights critical steps of the procedure, anatomical landmarks and technical details relevant to successful completion. RESULTS: Complete restoration of the anatomy was achieved with an operative time of 6.5 h. Mobilization occured on day 1, and bowels were opened on day 3. Surgical discharge was possible on day 5. No intra-operative surgical complication occurred and follow-up at 6 months showed no recurrence or mid-term complication. CONCLUSION: Combined minimally invasive reconstruction of the gastrointestinal tract and abdominal wall was feasible using a robotic system. In addition, potential advantages of postoperative rehabilitation and reduced surgical site complications are suggested. Prospective evaluation of the technique is ongoing.


Subject(s)
Abdominal Wall , Abdominoplasty , Hernia, Ventral , Robotic Surgical Procedures , Humans , Abdominal Wall/surgery , Abdominal Muscles/surgery , Hernia, Ventral/surgery , Robotic Surgical Procedures/methods , Abdominoplasty/methods , Herniorrhaphy/methods , Surgical Mesh/adverse effects
7.
Res Pract Thromb Haemost ; 7(1): 100006, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36970736

ABSTRACT

Background: The platelet population is heterogeneous, with different subsets that differ on the basis of their function and reactivity. An intrinsic factor participating in this difference of reactivity could be the platelet age. The lack of relevant tools allowing a formal identification of young platelets prevents so far to draw solid conclusions regarding platelet reactivity. We recently reported that human leukocyte antigen-I (HLA-I) molecules are more expressed on human young platelets. Objectives: The aim of this study was to assess platelet reactivity according to their age based on HLA-I expression level. Methods: Platelet activation was assessed by flow cytometry (FC) for different platelet subsets based on their HLA-I expression. These populations were further cell sorted and their intrinsic properties were determined by FC and electron microscopy (EM). Statistical analyses were performed with GraphPad Prism 5.02 software using two-way ANOVA followed by a Tukey post hoc test. Results: HLA-I expression level allowed the identification of 3 platelet subpopulations regarding to their age (HLA low, dim, and high). HLA-I was reliable to guide platelet cell sorting and highlighted the features of young platelets in the HLA-Ihigh population. In response to different soluble agonists, HLA-Ihigh platelets were the most reactive subset as shown by the level of P-selectin secretion and fibrinogen binding assessed by flow cytometry. Moreover, the highest capacity of HLA-Ihigh platelets to simultaneously express annexin-V and von Willebrand factor or activated αIIbß3 after coactivation with TRAP and CRP indicated that the procoagulant feature of platelets was age-related. Conclusion: The young HLA-Ihigh population is the most reactive and prone to become procoagulant. These results open up new perspectives to investigate deeply the role of young and old platelets.

8.
Front Immunol ; 14: 1125367, 2023.
Article in English | MEDLINE | ID: mdl-36845153

ABSTRACT

Patients with hematological disorders and severe thrombocytopenia require extensive and iterative platelet transfusion support. In these patients, platelet transfusion refractoriness represents a serious adverse transfusion event with major outcomes for patient care. Recipient alloantibodies against the donor HLA Class I antigens expressed at the cell surface of platelets result in a rapid removal of transfused platelets from the circulation and thus, therapeutic and prophylactic transfusion failure leading to a major bleeding risk. In this case, the only way to support the patient relies on the selection of HLA Class I compatible platelets, an approach restricted by the limited number of HLA-typed donors available and the difficulty of meeting the demand in an emergency. However, not all patients with anti-HLA Class I antibodies develop refractoriness to platelet transfusions, raising the question of the intrinsic characteristics of the antibodies and the immune-mediated mechanisms of platelet clearance associated with a refractory state. In this review, we examine the current challenges in platelet transfusion refractoriness and detail the key features of the antibodies involved that should be considered. Finally, we also provide an overview of future therapeutic strategies.


Subject(s)
Platelet Transfusion , Thrombocytopenia , Humans , Platelet Transfusion/adverse effects , Isoantibodies , HLA Antigens , Thrombocytopenia/therapy , Thrombocytopenia/etiology , Blood Platelets
9.
BMC Health Serv Res ; 22(1): 853, 2022 Jul 02.
Article in English | MEDLINE | ID: mdl-35780151

ABSTRACT

PURPOSE: Assess whether full-scale simulation exercises improved hospital pharmacies' disaster preparedness. METHODS: Swiss hospital pharmacies performed successive full-scale simulation exercises at least four months apart. An interprofessional team created two scenarios, each representing credible regional-scale disasters involving approximately fifty casualties (a major road accident and a terrorist attack). Four exercise assessors used appraisal forms to evaluate participants' actions and responses during the simulation (rating them using five-point Likert scales). RESULTS: Four hospital pharmacies performed two full-scale simulation exercises each. Differences between exercises one and two were observed. On average, the four hospitals accomplished 69% ± 6% of the actions expected of them during exercise one. The mean rate of expected actions accomplished increased to 84% ± 7% (p < 0.005) during exercise two. Moreover, the average quality of actions improved from 3.0/5 to 3.6/5 (p = 0.01), and the time required to gather a crisis management team drastically decreased between simulations (from 23 to 5 min). The main challenges were communication (reformulation) and crisis management. Simulation exercise number one resulted in three hospital pharmacies creating disaster action plans and the fourth improving its already existing plan. CONCLUSION: This study highlighted the value of carrying out full-scale disaster simulations for hospital pharmacies as they improved overall institutional preparedness and increased staff awareness. The number of expected actions accomplished increased significantly. In the future, large-scale studies and concept dissemination are warranted.


Subject(s)
Disaster Planning , Disasters , Pharmacies , Hospitals , Humans
11.
Blood Adv ; 6(18): 5279-5284, 2022 09 27.
Article in English | MEDLINE | ID: mdl-35404999

ABSTRACT

While loss-of-function variants in the WAS gene are associated with Wiskott-Aldrich syndrome and lead to microthrombocytopenia, gain-of-function variants of WAS are associated with X-linked neutropenia (XLN) and the absence of microthrombocytopenia. Only a few XLN families have been reported so far, and their platelet phenotype was not described in detail. To date, no renal involvement was described in XLN. In the present study, we report exome sequencing of individuals from 3 generations of a family with a dominant disease combining neutropenia, macrothrombocytopenia, and renal failure. We identified a heterozygous missense gain-of-function variant in the WAS gene (c.881T>C, p.I294T) that segregates with the disease and is already known to cause XLN. There was no pathogenic variant in MYH9, TUBB1, or ACTN1. This is the first report of a WAS gain-of-function variant associated with both the hematological phenotype of XLN (neutropenia, macrothrombocytopenia) and renal disease (proteinuria, renal failure) with glomerular tip lesion hyalinosis and actin condensations in effaced podocytes foot processes.


Subject(s)
Neutropenia , Renal Insufficiency , Wiskott-Aldrich Syndrome , Actins/genetics , Gain of Function Mutation , Hearing Loss, Sensorineural , Humans , Mutation , Myosin Heavy Chains/genetics , Neutropenia/genetics , Thrombocytopenia/congenital , Wiskott-Aldrich Syndrome/genetics , Wiskott-Aldrich Syndrome Protein/genetics
12.
J Thromb Haemost ; 20(2): 461-469, 2022 02.
Article in English | MEDLINE | ID: mdl-34704371

ABSTRACT

BACKGROUND: In the panel of genes commonly associated with inherited macrothrombocytopenia, an important fraction encodes key cytoskeletal proteins such as tubulin isotypes, the building blocks of microtubules. Macrothrombocytopenia-causing mutations have been identified in the TUBB1 and TUBA4A genes, emphasizing their importance in the formation of platelets and their marginal band, a unique microtubule ring-like structure that supports the platelet typical disc-shaped morphology. This raised the hypothesis that other tubulin isotypes normally expressed in platelets could play a similar role in their formation. OBJECTIVES: To assess whether tubulin isotype genes other than TUBA4A and TUBB1 could be implicated in inherited macrothrombocytopenia. METHODS: We used high throughput sequencing to screen a cohort of 448 French blood donors with mild thrombocytopenia for mutations in a panel of selected genes known or suspected to be involved in platelet biogenesis. RESULTS: We identified six distinct novel mutations in TUBA8, which encodes the most-divergent α-tubulin, as the causative determinant of macrothrombocytopenia and platelet marginal band defects. Functionally, all TUBA8 mutations were found to fully or partially inhibit the incorporation of the mutated α8-tubulin in the microtubule network. CONCLUSION: This study provides strong support for a key role of multiple tubulin genes in platelet biogenesis by discovering variants in a tubulin gene that was previously not known to be important for platelets.


Subject(s)
Thrombocytopenia , Tubulin , Blood Platelets/metabolism , Humans , Mutation , Thrombocytopenia/genetics , Thrombocytopenia/metabolism , Tubulin/genetics
14.
BMC Surg ; 21(1): 197, 2021 Apr 17.
Article in English | MEDLINE | ID: mdl-33865363

ABSTRACT

BACKGROUND: Surgical wound infection contributes to prolonged recovery time after pilonidal sinus excision. As a standard procedure after surgery, we recommend our patients to perform water irrigations in the intergluteal cleft 4 to 6 times a day during the post-operative period. Our hypothesis is that this should reduce healing time and complication rates. The aim of this study was to measure the importance of sacro coccygeal hygiene in the management of pilonidal sinus disease. METHODS: We retrospectively collected data after surgical management of pilonidal sinus (sinusectomy procedures) in our division over a 10-year period. Patients were divided into three groups according to their local hygiene during postoperative follow-up and scored one (G1: good hygiene) to three (G3: poor hygiene). Primary outcome was complication rates. Secondary endpoints were, healing time, follow-up, time off work, and recurrence rate. RESULTS: In G1 (N = 112), complication rate was 3.6%. In G2 (N = 109), it was 5.5%, whereas in G3 (N = 71), it reached 7.03%. However, there were no statistically significant differences between hygiene groups regarding complication rates in both univariate and multivariable analysis. Regarding secondary outcomes, there were significant differences between hygiene groups concerning median follow-up (p = 0.0001) and median time off work (p = 0.0127). CONCLUSION: Good hygiene of wound is essential for optimal, rapid healing without complications. The importance of this report is to show that thanks to our hygiene follow-up strategy with frequent perineal irrigations and regular follow-up checks, patients with at a first glance "unclean local conditions", reached similar complications, median healing time and recurrences rates to patients with medium and good wound hygiene level.


Subject(s)
Hygiene , Pilonidal Sinus/surgery , Sacrococcygeal Region , Surgical Wound Infection/prevention & control , Adolescent , Adult , Female , Humans , Male , Middle Aged , Neoplasm Recurrence, Local , Recurrence , Retrospective Studies , Surgical Wound Infection/epidemiology , Treatment Outcome , Wound Healing , Young Adult
15.
Mol Genet Genomic Med ; 9(5): e1658, 2021 05.
Article in English | MEDLINE | ID: mdl-33780168

ABSTRACT

BACKGROUND: Podocalyxin (PODXL) is a highly sialylated adhesion glycoprotein that plays an important role in podocyte's physiology. Recently, missense and nonsense dominant variants in the PODXL gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of nephrotic syndrome and kidney failure. Their histologic description, however, was superficial or absent. METHODS: We performed exome sequencing on a three-generation family affected by an atypical glomerular nephropathy and characterized the disease by light and electron microscopy. RESULTS: The disease was characterized by FSGS features and glomerular basement membrane duplication. Six family members displayed chronic proteinuria, ranging from mild manifestations without renal failure, to severe forms with end-stage renal disease. Exome sequencing of affected twin sisters, their affected mother, healthy father, and healthy maternal uncle revealed a new nonsense variant cosegregating with the disease (c.1453C>T, NM_001018111) in the PODXL gene, which is known to be expressed in the kidney and to cause nephropathy when mutated. The variant is predicted to lead to a premature stop codon (p.Q485*) that results in the loss of the intracytoplasmic tail of the protein. CONCLUSION: This is the first description of a peculiar association combining a PODXL stop-gain variant and both FSGS and membranoproliferative glomerulonephritis features, described by light and electron microscopy.


Subject(s)
Codon, Nonsense , Glomerulosclerosis, Focal Segmental/genetics , Sialoglycoproteins/genetics , Adolescent , Adult , Child , Female , Glomerulosclerosis, Focal Segmental/metabolism , Glomerulosclerosis, Focal Segmental/pathology , Humans , Kidney/metabolism , Kidney/ultrastructure , Male , Middle Aged , Pedigree , Sialoglycoproteins/metabolism
16.
Swiss Med Wkly ; 150: w20379, 2020 Nov 30.
Article in English | MEDLINE | ID: mdl-33277910

ABSTRACT

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a heterogeneous group of rare inherited diseases involving connective tissue. Vascular EDS (vEDS) is associated with abnormal type III collagen, which is an essential component of skin, hollow organs and arterial walls, and causes potentially fatal visceral and arterial complications. The surgical management of these patients is challenging and should be limited to life-saving procedures. CASE DESCRIPTION: We report a case of a 42-year-old male who presented a hemorrhagic shock due to spontaneous rupture of an ascending branch of the left colic artery. The coexisting presence of multiple abdominal vascular abnormalities suggested the diagnosis of vEDS, later confirmed by the discovery of a new missense mutation in the COL3A1 gene with pathogenic significance. The post-operative course was marked by a mechanical ileus caused by an ischemic stenosis of the descending colon. Failure of conservative management and the well-known risk of colonic perforation in these patients led to the decision to perform a diverting ileostomy. CONCLUSION: The management of these patients is difficult, and risk-benefit assessments must be made on a case-by-case basis. Less invasive procedures should be considered whenever possible.


Subject(s)
Ehlers-Danlos Syndrome , Adult , Collagen Type III/genetics , Ehlers-Danlos Syndrome/complications , Ehlers-Danlos Syndrome/genetics , Humans , Male , Risk Assessment
17.
J Clin Med ; 9(8)2020 Aug 04.
Article in English | MEDLINE | ID: mdl-32759727

ABSTRACT

Platelet dense-granules are small organelles specific to the platelet lineage that contain small molecules (calcium, adenyl nucleotides, serotonin) and are essential for the activation of blood platelets prior to their aggregation in the event of a vascular injury. Delta-storage pool diseases (δ-SPDs) are platelet pathologies leading to hemorrhagic syndromes of variable severity and related to a qualitative (content) or quantitative (numerical) deficiency in dense-granules. These pathologies appear in a syndromic or non-syndromic form. The syndromic forms (Chediak-Higashi disease, Hermansky-Pudlak syndromes), whose causative genes are known, associate immune deficiencies and/or oculocutaneous albinism with a platelet function disorder (PFD). The non-syndromic forms correspond to an isolated PFD, but the genes responsible for the pathology are not yet known. The diagnosis of these pathologies is complex and poorly standardized. It is based on orientation tests performed by light transmission aggregometry or flow cytometry, which are supplemented by complementary tests based on the quantification of platelet dense-granules by electron microscopy using the whole platelet mount technique and the direct determination of granule contents (ADP/ATP and serotonin). The objective of this review is to present the state of our knowledge concerning platelet dense-granules and the tools available for the diagnosis of different forms of δ-SPD.

18.
Transfusion ; 60(10): 2419-2431, 2020 10.
Article in English | MEDLINE | ID: mdl-32757236

ABSTRACT

BACKGROUND: Thrombocytopenia has a variety of different etiologies, both acquired and hereditary. Inherited thrombocytopenia may be associated with other symptoms (syndromic forms) or may be strictly isolated. To date, only about half of all the familial forms of thrombocytopenia have been accounted for in terms of well-defined genetic abnormalities. However, data are limited on the nature and frequency of the underlying causative genetic variants in individuals with mild isolated nonsyndromic thrombocytopenia. STUDY DESIGN AND METHODS: Thirteen known or candidate genes for isolated thrombocytopenia were included in a gene panel analysis in which targeted next-generation sequencing was performed on 448 French blood donors with mild isolated nonsyndromic thrombocytopenia. RESULTS: A total of 68 rare variants, including missense, splice site, frameshift, nonsense, and in-frame variants (all heterozygous) were identified in 11 of the 13 genes screened. Twenty-nine percent (N = 20) of the variants detected were absent from both the French Exome Project and gnomAD exome databases. Using stringent criteria and an unbiased approach, we classified seven predicted loss-of-function variants (three in ITGA2B and four in TUBB1) and four missense variants (one in GP1BA, two in ITGB3 and one in ACTN1) as being pathogenic or likely pathogenic. Altogether, they were found in 13 members (approx. 3%) of our studied cohort. CONCLUSION: We present the results of gene panel sequencing of known and candidate thrombocytopenia genes in mild isolated nonsyndromic thrombocytopenia. Pathogenic and likely pathogenic variants in five known thrombocytopenia genes were identified, accounting for approximately 3% of individuals with the condition.


Subject(s)
Exome Sequencing , Genetic Predisposition to Disease , High-Throughput Nucleotide Sequencing , Mutation , Thrombocytopenia/genetics , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged
19.
Rev Med Suisse ; 16(699): 1300-1304, 2020 Jul 01.
Article in French | MEDLINE | ID: mdl-32608587

ABSTRACT

Ventral hernia surgery has undergone major changes over the past decade with the emergence of new minimally invasive techniques. They merge fundamental concepts of parietal reconstruction of open surgery into a laparoscopic approach, aiming to reduce surgical site complications and to enhance recovery. The spread of robotic assistance systems in the field of abdominal wall surgery facilitates access to this type of procedures and allows their application in increasingly complex cases. Parietal relaxation techniques allow large hernial orifices to be closed without tension. They are now also performed with a minimally invasive approach and in a less aggressive manner. Even if the exact place of all these techniques still needs to be better defined depending on the different hernia types, these laparoscopic or robot-assisted approaches already tend to allow faster post-operative recovery.


Avec l'apparition de nouvelles techniques minimalement invasives, la chirurgie des hernies ventrales connaît depuis une dizaine d'années de profonds remaniements. Elles ont en commun d'intégrer les concepts fondamentaux de reconstruction pariétale de la chirurgie ouverte à une voie d'abord laparoscopique, dans le but de réduire les taux de complication du site opératoire et de permettre une réhabilitation accélérée. La diffusion des systèmes d'assistance robotique en chirurgie de la paroi facilite l'accès à ce type de procédure et permet d'envisager leur application dans des cas de plus en plus complexes. Les techniques de relaxation pariétale permettent la fermeture sans tension d'orifices herniaires larges. Elles sont maintenant aussi réalisées par voie minimalement invasive et de manière moins délabrante. Même si la place exacte de l'ensemble de ces techniques doit encore être mieux définie en fonction du type de hernie, ces prises en charge laparoscopiques ou robot-assistées semblent déjà permettre une récupération postopératoire plus rapide.


Subject(s)
Hernia, Ventral/surgery , Herniorrhaphy , Laparoscopy , Robotic Surgical Procedures , Humans
20.
Int J Surg Protoc ; 21: 27-31, 2020.
Article in English | MEDLINE | ID: mdl-32368702

ABSTRACT

BACKGROUND: The objective of the present study is to compare the outcomes open PVHR and robotic PVHR. METHODS/DESIGN: The present study will be a randomized single-blinded controlled trial with intention-to-treat analysis comparing robotic PVHR to open PVHR in adult patients undergoing elective PVHR with a defect ranging between 1-5 cm. Patient refusing to participate, not able to give informed consent, with history of intra-abdominal surgery contraindicating a robotic surgical approach will be excluded. The intervention will consist in laparoscopic robotically assisted trans-abdominal pre-peritoneal epigastric or umbilical PVHR with closure of fascial defect and non-adsorbable mesh reinforcement. The control will be open pre-peritoneal epigastric or umbilical hernia repair with closure of fascial defect and non-absorbable mesh reinforcement. The primary outcome will be the incidence of wound-related complication within 1 month. The secondary outcomes will be esthetic satisfaction, pain, pain-killers consumption, general complications, costs, operative time and early hernia recurrence. DISCUSSION: Open PVHR is potentially associated to more wound-related complications, but has the advantages of cost-effectiveness, short operative time and totally extra-peritoneal repair. Laparoscopic PVHR has lower wound-related complications but implies placing the mesh in intra-peritoneal position, requires advanced laparoscopic skills, usually does not allow the closure of the defect, and can lead to excessive pain and pain-killers consumption. Robotic PVHR uses the same laparoscopic access as laparoscopic PVHR, but thanks to the extended range of motion given by the robotic system, allows defect closure, pre-peritoneal placement of the mesh and requires less technical skills.In the present randomized controlled trial, we expect to show that robotic PVHR leads to better wound-related outcomes than open PVHR. TRIAL REGISTRATION: The present randomized controlled trial was registered into clinicaltrials.gov under registration number NCT04171921.

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