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1.
Intravenous immunoglobulin (IVIg) is used to treat a number of immune-deficiencies and autoimmune diseases. It has been shown that IVIg contains anti-idiotypic antibodies, which explains its immunomodulatory action.In murine models, recent investigations have demonstrated that IVIg can prevent and reduce the affliction by systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS) and scleroderma. Relevant disease-specific fractions of IVIg were able to reproduce and even enhance the therapeutic effect in a murine model.IVIg treatment before tumor resection in rodents inoculated with melanoma and sarcoma cells dramatically improved the cure rate (50%) in comparison to the control group (0%).In patients affected by SLE, several clinical manifestations responded to IVIg treatment including serositis, hematological manifestations, treatment-resistant nephritis and central nervous system involvement. Similarly, in women with recurrent fetal loss due to APS, IVIg was able to diminish the abortion rate. Vasculitides such as Churg–Strauss' and Wegener's and skin fibrosis in patients affected by scleroderma improved after IVIg treatment. In agreement with in vitro investigations, prolonged survival has been noted in cancer patients treated with IVIg.We suggest that in the presence of a steroid and immunosuppressive-resistant autoimmune disease, IVIg is a rational and safe choice. 相似文献
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《Genetics in medicine》2023,25(9):100881
PurposeCongenital hypopituitarism (CH) disorders are phenotypically variable. Variants in multiple genes are associated with these disorders, with variable penetrance and inheritance.MethodsWe screened a large cohort (N = 1765) of patients with or at risk of CH using Sanger sequencing, selected according to phenotype, and conducted next-generation sequencing (NGS) in 51 families within our cohort. We report the clinical, hormonal, and neuroradiological phenotypes of patients with variants in known genes associated with CH.ResultsWe identified variants in 178 patients: GH1/GHRHR (51 patients of 414 screened), PROP1 (17 of 253), POU1F1 (15 of 139), SOX2 (13 of 59), GLI2 (7 of 106), LHX3/LHX4 (8 of 110), HESX1 (8 of 724), SOX3 (9 of 354), OTX2 (5 of 59), SHH (2 of 64), and TCF7L1, KAL1, FGFR1, and FGF8 (2 of 585, respectively). NGS identified 26 novel variants in 35 patients (from 24 families). Magnetic resonance imaging showed prevalent hypothalamo-pituitary abnormalities, present in all patients with PROP1, GLI2, SOX3, HESX1, OTX2, LHX3, and LHX4 variants. Normal hypothalamo-pituitary anatomy was reported in 24 of 121, predominantly those with GH1, GHRHR, POU1F1, and SOX2 variants.ConclusionWe identified variants in 10% (178 of 1765) of our CH cohort. NGS has revolutionized variant identification, and careful phenotypic patient characterization has improved our understanding of CH. We have constructed a flow chart to guide genetic analysis in these patients, which will evolve upon novel gene discoveries. 相似文献
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Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system. The majority of MS patients have a relapsing-remitting course with progressive neurological disability that accumulates over the years. Intravenous Immunoglobulin (IVIg) has demonstrated benefit in the treatment of some patients with relapsing-remitting MS. Concerns about adverse events of IVIg, mainly acute renal failure and thromboembolic events have been raised in the medical literature. We examined the adverse events profile of IVIg treatment in a large cohort of 293 relapsing-remitting MS patients treated with an initial loading dose of IVIg (0.4 g/Kg body weight/day, for 5 consecutive days) and additional booster dose infusions (0.4 g/Kg body weight/booster dose, every 6 weeks) as a maintenance treatment. A total of 9281 IVIg infusions were administered within a mean treatment period of 3.8 +/- 3.5 years (3 months-10 years). The main adverse event during the loading dose period was headache, occurring in 12.6% of the patients. The annual rate of any adverse event during the IVIg maintenance period was 4.4% during the first year and had a trend to decrease with every passing year of treatment. Adverse events during the loading dose did not predict adverse events during the maintenance phase. No severe adverse events were recorded. We conclude that IVIg is a safe therapy in MS either for short or for long-term periods. 相似文献
4.
Uriel Katz Irena Kishner David Magalashvili Yehuda Shoenfeld Anat Achiron 《Autoimmunity》2013,46(6):513-517
Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system. The majority of MS patients have a relapsing–remitting course with progressive neurological disability that accumulates over the years. Intravenous Immunoglobulin (IVIg) has demonstrated benefit in the treatment of some patients with relapsing–remitting MS. Concerns about adverse events of IVIg, mainly acute renal failure and thromboembolic events have been raised in the medical literature. We examined the adverse events profile of IVIg treatment in a large cohort of 293 relapsing–remitting MS patients treated with an initial loading dose of IVIg (0.4 g/Kg body weight/day, for 5 consecutive days) and additional booster dose infusions (0.4 g/Kg body weight/booster dose, every 6 weeks) as a maintenance treatment. A total of 9281 IVIg infusions were administered within a mean treatment period of 3.8 ± 3.5 years (3 months–10 years). The main adverse event during the loading dose period was headache, occurring in 12.6% of the patients. The annual rate of any adverse event during the IVIg maintenance period was 4.4% during the first year and had a trend to decrease with every passing year of treatment. Adverse events during the loading dose did not predict adverse events during the maintenance phase. No severe adverse events were recorded. We conclude that IVIg is a safe therapy in MS either for short or for long-term periods. 相似文献
5.
Scher J Salazar C 《American journal of reproductive immunology (New York, N.Y. : 1989)》2000,44(2):121-124
PROBLEM: This study reviews one practitioner's experience with intravenous immunoglobulin (IVIg) therapy in the in-vitro fertilization (IVF) cycles of 30 patients with previous IVF failures. METHOD OF STUDY: Thirty patients had undergone 82 prior assisted reproductive technology (ART) cycles (mean 3.9 +/- 2 failed ART cycles, median 3.0, range 1-8) yielding one term birth, one loss at 22.5 weeks, and five chemical pregnancies. These patients underwent comprehensive clinical and laboratory evaluation, including immunologic workup, and were accepted for IVIg therapy in their next IVF cycle. RESULTS: A total of 40 cycles were treated. Twenty-four (60%) of the IVIg-treated IVF cycles showed a positive human chorionic gonadotropin test. Comparing the IVIg cycles to the untreated ART cycles, there were no differences in the number of embryos transferred, fertilized embryos, or eggs. Eighty-six percent of the cases with confirmed implantation delivered; there was one chemical pregnancy, one 20-week spontaneous fetal death, and one trisomy. Five (24%) of the 21 pregnant patients delivered at 30-36 weeks. The remaining 13 delivered at term. Only three (11%) had no positive immune test. CONCLUSION: In what may be a selected population of IVF patients (with high incidence of abnormal immune testing), early IVIg therapy may be associated with the improved success of IVF, and the high rate of live birth. 相似文献
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STUDY OBJECTIVES: We conducted the present study to determine whether psychiatric disorders are commonly associated with sleep apnea in Veterans Health Administration beneficiaries. METHOD: The Veterans Health Administration maintains several centralized databases containing healthcare data for more than 4 million veterans. We reviewed data from 1998 to 2001 and identified patient records having International Classification of Diseases-Ninth Edition-Clinical Modification codes indicating sleep apnea and various psychiatric conditions. Subsequently, we compared age, sex, ethnicity, and prevalence of comorbid psychiatric conditions for Veterans Health Administration beneficiaries with and without sleep apnea. RESULTS: Out of 4,060,504 unique cases, 118,105 were identified as having sleep apnea (estimated prevalence of 2.91%). Mean age at the time of diagnosis was 57.6 years. Psychiatric comorbid diagnoses in the sleep apnea group included depression (21.8%), anxiety (16.7%), posttraumatic stress disorder (11.9%), psychosis (5.1), and bipolar disorders (3.3%). Compared with patients not diagnosed with sleep apnea, a significantly greater prevalence (P < .0001) was found for mood disorders, anxiety, posttraumatic stress disorder, psychosis, and dementia in patients with sleep apnea. CONCLUSIONS: Sleep apnea is associated with a higher prevalence of psychiatric comorbid conditions in Veterans Health Administration beneficiaries. This association suggests that patients with psychiatric disorders and coincident symptoms suggesting sleep-disordered breathing should be evaluated for sleep apnea. 相似文献
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Planinsek Rucigaj T Tlaker Zunter V Miljković J 《Acta medica Croatica : c?asopis Hravatske akademije medicinskih znanosti》2010,64(3):167-173
The term lymphedema refers to a chronic, progressive edema, usually of a limb, due to insufficient lymphatic flow. It may appear as a primary disturbance or secondary to other causes, e.g., after infections or surgery. The most common cause of lymphedema in the Western world is cancer surgery and/or radiotherapy. The authors summarize the etiology, pathophysiology and clinical staging of lymphedema. The diagnosis of lymphedema is usually based on history and clinical appearance. However, lymphoscintigraphy is the gold standard of imaging in doubtful cases. Adequate and early compression therapy and good patient compliance are the cornerstones of management of lymphedema. The authors present their experience with compression therapy for lymphedema. While no differences were found in the efficiency of compression therapy between oncologic and non-oncologic patients, compression stockings of class III seemed to be efficient in the majority of secondary lower limb lymphedemas but not as maintenance therapy for primary lower limb lymphedema. 相似文献
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Kotsianidis I Nakou E Spanoudakis E Bouchliou I Moustakidis E Miltiades P Vadikolia CM Szydlo R Karadimitris A Tsatalas C 《American journal of clinical pathology》2011,136(3):400-408
Immunophenotyping is indispensable in the differential diagnosis of B-cell chronic lymphoproliferative disorders (B-CLPDs). However, B-CLPDs often show overlapping immunophenotypic profiles and may be diagnostically challenging. CD1d is an HLA class I-like molecule that presents glycolipids to invariant natural killer T cells. Normal mature B cells constitutively express CD1d, but with the exception of some conflicting data, its expression in B-CLPDs is unknown. We demonstrate that in 222 B-CLPD cases, CD1d expression of less than 45% is strongly predictive of CLL (likelihood ratio, 32.3; specificity, 97.4%; sensitivity, 84.1%). In addition, CD1d showed significantly higher staining intensity in splenic marginal zone lymphoma compared with atypical hairy cell leukemia, lymphoplasmacytic lymphoma, and mantle cell lymphoma, thus allowing the discrimination of the former from the latter immunophenotypically overlapping B-CLPDs. It is important to note that in a given patient, CD1d expression on malignant B cells was similar between tissues and remained unaffected by disease stage and treatment status. Our findings strongly argue for the incorporation of CD1d into routine lymphoma panels. 相似文献
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Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1‐related disorders 下载免费PDF全文
M. Quere M. Plutino S. Ait‐El‐Mkadem S. Bannwarth M. Barth H. Dollfus P. Charles M. Nicolino B. Chabrol B. Vialettes V. Paquis‐Flucklinger 《Clinical genetics》2015,87(5):430-439
WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile‐onset diabetes mellitus and optic atrophy, and for low‐frequency sensorineural hearing loss (LFSNHL). Our aim was to analyze the French cohort of 96 patients with WFS1‐related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise the frequency of large‐scale rearrangements in WFS1. We performed quantitative polymerase chain reaction (PCR) in 13 patients, carrying only one heterozygous variant, to identify large‐scale rearrangements in WFS1. Among the 37 novel patients, 15 carried 15 novel deleterious putative mutations, including one large deletion of 17,444 base pairs. The analysis of the cohort revealed unexpected phenotypes including (i) late‐onset symptoms in 13.8% of patients with a probable autosomal recessive transmission; (ii) two siblings with recessive optic atrophy without diabetes mellitus and, (iii) six patients from four families with dominantly‐inherited deafness and optic atrophy. We highlight the expanding spectrum of WFS1‐related disorders and we show that, even if large deletions are rare events, they have to be searched in patients with classical WS carrying only one WFS1 mutation after sequencing. 相似文献
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Jumanah Alshenaifi Nour Ewida Shams Anazi Hanan E. Shamseldin Nisha Patel Sateesh Maddirevula Tarfa Al-Sheddi Rana Alomar Eman Alobeid Niema Ibrahim Mais Hashem Firdous Abdulwahab Minnie Jacob Amal Alhashem Hamad I. Alzaidan Mohammed Z. Seidahmed Nadia Alhashemi Rifaat Rawashdeh Wafaa Eyaid Zuhair N. Al-Hassnan Zuhair Rahbeeni Abdulrahman Alswaid Adnan Hadid Alya Qari Dia A. Mohammed Heba Y. El Khashab Majid Alfadhel Mohammad Abanemai Rawda Sunbul Saeed Al Tala Salwa Alkhalifi Turki Alkharfi Mohamed Abouelhoda Dorota Monies Nada Al Tassan Saud H. AlDubayan Wesam Kurdi Mohammed Al-Owain Majed J. Dasouki Amal Y. Kentab Suha Atyani Nawal Makhseed Eissa Faqeih Ranad Shaheen Fowzan S. Alkuraya 《Clinical genetics》2019,95(2):310-319
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. The founder nature of many of the variants allowed us to calculate the minimum disease burden for these disorders in our population ~1:30 000, which is much higher than previous estimates in other populations. Clinically, we found an interesting trend toward genotype/phenotype correlation in terms of long-term survival. Nearly half (40/75) of our peroxisomal disorders patients had documented survival beyond 1 year of age. Most unusual among the long-term survivors was a multiplex family in which the affected members presented as adults with non-specific intellectual disability and epilepsy. Other unusual presentations included the very recently described peroxisomal fatty acyl-CoA reductase 1 disorder as well as CRD, spastic paraparesis, white matter (CRSPW) syndrome. We conclude that peroxisomal disorders are highly heterogeneous in their clinical presentation. Our data also confirm the demonstration that milder forms of Zellweger spectrum disorders cannot be ruled out by the “gold standard” very long chain fatty acids assay, which highlights the value of a genomics-first approach in these cases. 相似文献
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《Genetics in medicine》2019,21(8):1832-1841
PurposeHeritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management.MethodsWe analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome sequencing in a clinically relevant cohort of 199 individuals. We classified and refined sequence variants according to their likelihood for pathogenicity.ResultsWe identified 1 pathogenic variant (PV; in FBN1 or SMAD3) in 15 patients (7.5%) and ≥1 likely pathogenic variant (LPV; in COL3A1, FBN1, FBN2, LOX, MYH11, SMAD3, TGFBR1, or TGFBR2) in 19 individuals (9.6%), together resulting in 17.1% diagnostic yield. Thirteen PV/LPV were novel. Of PV/LPV-negative patients 47 (23.6%) showed ≥1 variant of uncertain significance (VUS). Twenty-five patients had concomitant variants. In-depth evaluation of reported/calculated variant classes resulted in reclassification of 19.8% of variants.ConclusionVariant classification and refinement are essential for shaping mutational spectra of disease genes, thereby improving clinical sensitivity. Obligate stringent multigene analysis is a powerful tool for identifying genetic causes of clinically related CTDs. Nonetheless, the relatively high rate of PV/LPV/VUS-negative patients underscores the existence of yet unknown disease loci and/or oligogenic/polygenic inheritance. 相似文献
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Amir Hossein Saeidian Leila Youssefian Jianhe Huang Andrew Touati Hassan Vahidnezhad Luke Kowal Matthew Caffet Tamara Wurst Jagmohan Singh Adam E. Snook Ellen Ryu Paolo Fortina Sharon F. Terry Jonathan G. Schoenecker Jouni Uitto Qiaoli Li 《Genetics in medicine》2022,24(1):75-86
PurposeHeritable ectopic mineralization disorders comprise a group of conditions with a broad range of clinical manifestations in nonskeletal connective tissues. We report the genetic findings from a large international cohort of 478 patients afflicted with ectopic mineralization.MethodsSequence variations were identified using a next-generation sequencing panel consisting of 29 genes reported in association with ectopic mineralization. The pathogenicity of select splicing and missense variants was analyzed in experimental systems in vitro and in vivo.ResultsA total of 872 variants of unknown significance as well as likely pathogenic and pathogenic variants were disclosed in 25 genes. A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. The interpretation of variant pathogenicity relying on bioinformatic predictions did not provide a consensus. Our in vitro and in vivo functional assessment of 14 ABCC6 variants highlighted this dilemma and provided unambiguous interpretations to their pathogenicity.ConclusionThe results expand the ABCC6 variant repertoire, shed new light on the genetic heterogeneity of heritable ectopic mineralization disorders, and provide evidence that functional characterization in appropriate experimental systems is necessary to determine the pathogenicity of genetic variants. 相似文献
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H.J. Park H. Jang J.H. Kim J.H. Lee H.Y. Shin S.M. Kim K.D. Park S.‐V. Yim J.H. Lee Y.‐C. Choi 《Clinical genetics》2017,91(3):403-410
Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous genetic disorders. We investigated the mutational spectrum and genotype–phenotype correlations in Korean patients with IMD. We developed a targeted panel of 69 known IMD genes and recruited a total of 209 Korean patients with IMD. Targeted capture sequencing identified 994 different variants. Among them, 98 variants were classified as pathogenic/likely pathogenic variants; 38 were novel variations. A total of 39 patients had the pathogenic/likely pathogenic variants. Among them, 75 (36%) patients were genetically confirmed, and 18 (9%) patients had one heterozygous variant of recessive myopathy. However, two genetically confirmed patients had an additional heterozygous variant of another recessive myopathy. Four patients with one heterozygous variant of a recessive myopathy showed different phenotypes, compared with the known phenotype of the identified gene. The major causative genes of Korean patients with IMDs were DMD (19 patients), COL6A1 (9), DYSF (9), GNE (7), LMNA (7), CAPN3 (6), and RYR1 (5). This study showed the mutational and clinical spectra in Korean patients with IMD and confirmed the usefulness of strategies utilizing targeted sequencing. 相似文献
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Influence of IVIg therapy on autoantibody titers to desmoglein 1 in patients with pemphigus foliaceus 总被引:1,自引:0,他引:1
Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by the presence of a pathogenic autoantibody to desmoglein 1, an epidermal cadherin molecule. Antibody titers to the desmoglein 1 protein can be used to monitor disease activity and severity in patients with PF. The purpose of this study is to report the influence of IVIg therapy on anti-desmoglein 1 antibody titers, in eight patients with severe PF, over a period of 18 consecutive months on each patient. This prospective study consisted of eight patients with severe widespread active PF at the time of entry into the study. The levels of autoantibody to desmoglein 1 were measured by an ELISA, at monthly intervals. Sera of all eight had high titers of the autoantibody to desmoglein 1, prior to initiating of IVIg therapy. A statistically significant reduction in the autoantibody titer index to desmoglein 1 was seen after 4 months of IVIg therapy. All eight patients were observed to have a progressive decline in autoantibody titer index while they were receiving IVIg. Patients on IVIg therapy had nondetectable titers after a mean period of 13 months and continued to remain in a serological remission for an additional observation period of 5 months. In the context of this study, autoantibody titers to desmoglein 1 can be used to monitor the serological response to treatment in patients with PF. Patients receiving IVIg therapy achieve serological remission. 相似文献
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Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy 总被引:2,自引:0,他引:2
Erdmann J Daehmlow S Wischke S Senyuva M Werner U Raible J Tanis N Dyachenko S Hummel M Hetzer R Regitz-Zagrosek V 《Clinical genetics》2003,64(4):339-349
Defects in nine sarcomeric protein genes are known to cause hypertrophic cardiomyopathy (HCM). Mutation types and frequencies in large cohorts of consecutive and unrelated patients have not yet been determined. We, therefore, screened HCM patients for mutations in six sarcomeric genes: myosin-binding protein C3 (MYBPC3), MYH7, cardiac troponin T (TNNT2), alpha-tropomyosin (TPM1), cardiac troponin I (TNNI3), and cardiac troponin C (TNNC1). HCM was diagnosed in 108 consecutive patients by echocardiography (septum >15 mm, septal/posterior wall >1.3 mm), angiography, or based on a state after myectomy. Single-strand conformation polymorphism analysis was used for mutation screening, followed by DNA-sequencing. A total of 34 different mutations were identified in 108 patients: 18 mutations in MYBPC3 in 20 patients [intervening sequence (intron) 7 + 1G > A and Q1233X were found twice], 13 missense mutations in MYH7 in 14 patients (R807H was found twice), and one amino acid change in TPM1, TNNT2, and TNNI3, respectively. No disease-causing mutation was found in TNNC1. Cosegregation with the HCM phenotype could be demonstrated for 13 mutations (eight mutations in MYBPC3 and five mutations in MYH7). Twenty-eight of the 37 mutation carriers (76%) reported a positive family history with at least one affected first-grade relative; only eight mutations occurred sporadically (22%). MYBPC3 was the gene that most frequently caused HCM in our population. Systematic mutation screening in large samples of HCM patients leads to a genetic diagnosis in about 30% of unrelated index patients and in about 57% of patients with a positive family history. 相似文献
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Background
Eosinophilic esophagitis (EoE) is a chronic, allergic, immune-mediated disease associated with increased risk of comorbid atopic conditions.Objective
To perform an in-depth characterization of a large cohort of manually verified adult patients with EoE, including evaluation of less studied associations, such as pollen food allergy syndrome, anaphylaxis, autoimmunity, and psychiatric comorbidities.Methods
We performed a manual retrospective electronic medical record review of 1,218 patients with EoE identified by International Classification of Diseases, Ninth Revision and International Classification of Disease, 10th Revision codes from the University of Pennsylvania Health Systems. Through manual medical record review, we evaluated patient demographics, family and smoking history, laboratory and endoscopic findings, treatment, and comorbid atopic, autoimmune, and psychiatric conditions.Results
A total of 950 of the 1,218 patients had biopsy-proven EoE. This cohort was predominantly male, white, and never-smokers who presented most commonly with dysphagia, with an initial biopsy results showing 49 eosinophils per high-powered field, a serum absolute eosinophilic count of 446,000/µL, and mean total IgE level of 243 IU/mL. Of the patients, 55% had impaction (of which 38% required endoscopic removal), and 56% had strictures or fibrosis (of which 56% underwent dilatation). Therapy used was predominantly (77%) medical only. Comorbid atopy, pollen food allergy syndrome, drug allergy, anaphylaxis, autoimmunity, and psychiatric illnesses were higher in the EoE cohort compared with the general University of Pennsylvania Health Systems population.Conclusion
Our adult cohort of manually verified, biopsy-proven EoE had an increased risk of pollen food allergy syndrome, anaphylaxis, and comorbid autoimmune and psychiatric conditions compared with the University of Pennsylvania Health Systems population. There was also an increased prevalence of impaction and stricture or fibrosis requiring endoscopic intervention compared with the pediatric population. 相似文献19.
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Montenegro FL Lourenço DM Tavares MR Arap SS Nascimento CP Massoni Neto LM D'Alessandro A Toledo RA Coutinho FL Brandão LG de Britto e Silva Filho G Cordeiro AC Toledo SP 《Clinics (S?o Paulo, Brazil)》2012,67(Z1):131-139
Most cases of sporadic primary hyperparathyroidism present disturbances in a single parathyroid gland and the surgery of choice is adenomectomy. Conversely, hyperparathyroidism associated with multiple endocrine neoplasia type 1 (hyperparathyroidism/multiple endocrine neoplasia type 1) is an asynchronic, asymmetrical multiglandular disease and it is surgically approached by either subtotal parathyroidectomy or total parathyroidectomy followed by parathyroid auto-implant to the forearm. In skilful hands, the efficacy of both approaches is similar and both should be complemented by prophylactic thymectomy. In a single academic center, 83 cases of hyperparathyroidism/ multiple endocrine neoplasia type 1 were operated on from 1987 to 2010 and our first surgical choice was total parathyroidectomy followed by parathyroid auto-implant to the non-dominant forearm and, since 1997, associated transcervical thymectomy to prevent thymic carcinoid. Overall, 40% of patients were given calcium replacement (mean intake 1.6 g/day) during the first months after surgery, and this fell to 28% in patients with longer follow-up. These findings indicate that several months may be needed in order to achieve a proper secretion by the parathyroid auto-implant. Hyperparathyroidism recurrence was observed in up to 15% of cases several years after the initial surgery. Thus, long-term follow-up is recommended for such cases. We conclude that, despite a tendency to subtotal parathyroidectomy worldwide, total parathyroidectomy followed by parathyroid auto-implant is a valid surgical option to treat hyperparathyroidism/multiple endocrine neoplasia type 1. Larger comparative systematic studies are needed to define the best surgical approach to hyperparathyroidism/multiple endocrine neoplasia type 1. 相似文献