Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder.

Raynaud-Claes syndrome is rare condition characterized with intellectual disability and is caused by X-linked pathogenic variants in CLCN4 gene. Hemizygous missense variant NM_001830.4: c.1597G>A (p.V533M) was detected in a 6-year-old male followed up with intellectual disability, dysmorphism, and epileptic encephalopathy. The mother and one sister of the patient were also carrying the same variant. The clinical picture of the patient was significantly more severe, and the patient exhibited nonconvulsive status. Tonic status was observed with benzodiazepine treatment and the patient was successfully treated with a ketogenic diet. Many types of seizures can be seen in Raynaud-Claes syndrome, some of which can be life-threatening. CLCN4 variants can be investigated in patients who exhibit an increase in tonic seizures with benzodiazepine treatment. However, ketogenic dietary therapy as first-line treatment can be lifesaving in resistant epilepsy cases caused by the CLCN4 gene.

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability.

Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years of age. Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and cause-effect relationships. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Array-based comparative genomic hybridization aCGH) can detect copy number variations (CNVs) on the whole genome at higher resolution than conventional cytogenetic methods. The diagnostic yield of aCGH was 15.0-20.0% in DD/ID cases. The aim of this study was to discuss the clinical findings and aCGH analysis results of isolated and syndromic DD/ID cases in the context of genotype-phenotype correlation. The study included 139 cases (77 females, 62 males). Data analysis revealed 38 different CNVs in 35 cases. In this study, 19 cases with pathogenic CNVs (13.6%) and five cases with likely pathogenic CNVs (3.5%) were found in a total of 139 cases diagnosed with DD/ID. When all pathogenic and likely pathogenic cases were evaluated, the diagnosis rate was 17.1%. The use of aCGH analysis as a first-tier test in DD/ID cases contributes significantly to the diagnosis rates and enables the detection of rare microdeletion/microduplication syndromes. The clear determination of genetic etiology contributes to the literature in terms of genotype-phenotype correlation.

The Expression Levels of MicroRNAs Associated with T and B Cell Differentiation/stimulation in Ankylosing Spondylitis.

Spondyloarthropathies (SpAs), are a group of chronic inflammatory diseases with a number of genetic, physiopathological, clinical and radiological features. Ankylosing spondylitis (AS) is the most common type of spondylo-arthropathies, and >90.0% of patients with ankylosing spondylitis are human leukocyte antigen-B27 (HLA-B2 7)-positive. In recent years, non-HLA genetic factors have been reported to have an effect on ankylosing spondylitis. MicroRNAs (miRNAs), are endogenous non coding RNA molecules containing 18-23 nucleotides that play a role in the post-transcriptional regulation of gene expression. In this study, we aimed to determine the expression levels of miRNAs associated with T- and B-cell differentiation/stimulation in peripheral blood mononuclear cells and their relationship with the etiology of the AS in patients and healthy controls. In a molecular study, peripheral blood mononuclear cell isolation, and total RNA isolation were performed first. In the second step, cDNA synthesis and quantitative real-time PCR (qPCR) expression analysis were completed. Ultimately, in the patient and control group, the expression levels of miR-142-5p and miR-143 were found to be significantly different (p <0.05). According to current knowledge, miR-142-5p andmiR-143 expressions were found to be important for those diseases that share similar etiology with AS. We suggest that miR-142-5p and miR-143 may play a role in the pathogenesis, especially miR- 142-5p may be a potential biomarker and a target molecule for the treatment.

A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features.

Trisomy 16 is the most common type of autosomal trisomy associated with spontaneous abortion and is incompatible with life. Upon examining previously reported cases of partial chromosome 16q duplication, it was noted that the majority of cases had complex chromosomal abnormalities due to parental balanced chromosomal translocation carriage. The clinical presentation of very rare pure partial trisomy 16q cases was associated with congenital anomalies, facial dysmorphic findings and intellectual disability. In this study, we evaluated the physical characteristics and genetic data of an 8-month-old girl with developmental delay and facial dysmorphic features. Dysmorphic features including prominent metopic suture, synophrys, asymmetric head shape, triangular and asymmetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set posteriorly rotated ears, auricular pits, high-arched palate, thin upper lip and hypotonia were recorded. Her karyotype was 46,XX,add(16)(q24). To identify the extension of the duplicated section, array comparative genomic hybridization (aCGH) analysis was performed, which showed a de novo 29.8 Mb duplication [arr[hgl9] 16q12.1q23.3(52459169-82285105) x 3], interpreted to be pathogenic. We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and advance the literature in terms of knowledge regarding genotypephenotype correlation.

A Novel Splice-site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient.

Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with cerebellar ataxia and spasticity. An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. His brain magnetic resonance imaging (MRI) revealed bilateral, diffuse, symmetric structural white matter abnormalities, relatively sparing the cerebellum and bilateral subcortical temporal cysts. The diagnosis of Van der Knaap disease was suspected based on the clinical features and imaging findings and the genetic analysis revealed a novel homozygous c.768+2T>C mutation of the MLC1 gene. For determination of the novel splice-site mutation's effect, cDNA amplification was performed. cDNA analysis showed that the splice-site c.768+2T>C mutation gave rise to exon 9 skipping.

Assessment of hand function and disability in fibromyalgia.

OBJECTIVE: Fibromyalgia, a potentially debilitating chronic pain syndrome, is a chronic disease. We aimed to compare the hand function of fibromyalgia (FM) patients and healthy individuals and to demonstrate the relationship between hand disability and FM. PATIENTS AND METHODS: The study was consisted of 40 female patients with FM and 30 healthy controls. All participants were evaluated for pain threshold measurements, handgrip strength, and pinch strength. Functional states, hand disability, and hand skills and coordination were evaluated using the Fibromyalgia Impact Questionnaire (FIQ) form, the Disability of Arm-Shoulder-Hand (DASH) questionnaire and the Purdue Pegboard Test, respectively. RESULTS: Handgrip strength values, DASH score, lateral pinch strength test, Pegboard placement time, and Pegboard collection time of the patient group were significantly lower than those of the control group (all p < 0.05). A negative correlation was found between FIQ score and handgrip strength, two-point pinch strength test, three-point pinch strength test, and lateral pinch strength test in patients with moderate FM (all p < 0.05). Furthermore, a correlation was observed between DASH score and handgrip strength, lateral pinch strength test, Purdue Pegboard placement time, and Purdue Pegboard collection time in patients with moderate FM (all p < 0.05). CONCLUSIONS: Our results show that hand function was decreased in patients with FM compared to healthy controls and decreasing hand function was influenced by FIQ score. As a result, the evaluation of hand function should be taken into consideration in the management of FM.

Relationship of osteoprotegerin to pulse wave velocity and carotid intima-media thickness in rheumatoid arthritis patients.

OBJECTIVE: Osteoprotegerin (OPG) is considered an important biomarker in cardiovascular (CV) disease. CV disease is the most common cause of mortality in patients with rheumatoid arthritis (RA), a consequence of accelerated atherosclerosis. The present study aimed to evaluate the relationship of serum OPG levels to arterial stiffness, carotid intima-media thickness (CIMT), and clinical and laboratory indices in RA patients. PATIENTS AND METHODS: Included in the study were 68 RA patients with no history or signs of CV disease and 48 healthy subjects Disease activity was assessed by the 28-joint disease activity score (DAS28) in RA patients. Serum OPG level was measured using enzyme-linked immunosorbent assay (ELISA). Carotid femoral pulse wave velocity (PWV) was measured as an index of arterial stiffness and CIMT was evaluated by carotid ultrasonography. RESULTS: The mean serum OPG level was significantly higher in RA patients than controls (p < 0.001). Mean PWV and CIMT were also significantly increased in RA patients compared to controls (both p < 0.001). In RA patients, serum OPG level was significantly correlated with PWV and CIMT, as well as rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) antibody; but not with DAS28, high-sensitivity C-reactive protein (hsCRP), or erythrocyte sedimentation rate. CONCLUSION: Serum OPG levels were increased and correlated with CIMT and PWV in RA patients. In addition to PWV and CIMT, OPG may be a useful biomarker for CV risk management in RA patients.

Genetics analysis with down syndrome and histopathological examination of buccal epithelial cells / Análisis genético y examen histopatológico de las células epiteliales bucales en pacientes con síndrome de down

Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8 percent). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome, while the bud structures in the form of micronuclei was observed in the karyolytic cells.

El síndrome de Down es causado principalmente por la trisomía del cromosoma 21. Se revisaron los estudios citogenéticos realizados en 1.048 pacientes que fueron remitidos a la Unidad de Citogenética del Dicle University Hospital, Diyarbakir, sudeste de Turquía, entre los años 2000 y 2009. Los casos se agruparon de acuerdo a la razón de referencia para el análisis citogenético. Las frecuencias más altas de cariotipos anormales se encontraron ent los casos que fueron remitidos por sospecha de síndrome de Down (84,8 por ciento). Para el estudio histológico de las personas con y sin síndrome de Down, se realizó el frotis de mucosa oral por hisopado. Los grupos con síndrome de Down y de control (sin síndrome) se compararon estadísticamente en relación a las células epiteliales orales y los núcleos (p <0,05). Se observaron núcleos periféricos en algunos pacientes con síndrome de Down, mientras que estructuras de tipo brotes en la forma de micronúcleos se observaron en las células cariolíticas.

The insertion/deletion polymorphism in the ACE gene and chronic obstructive pulmonary disease.

An insertion/deletion (I/D) polymorphism was identified in intron 16 of the gene encoding the human angiotensin I-converting enzyme (ACE), a candidate gene for chronic obstructive pulmonary disease (COPD). We investigated the relationship between this polymorphism in the ACE gene and the risk of developing COPD. Sixty-six COPD in-patients and 40 non-smoking control individuals were recruited for this study. The distribution of ACE genotypes in these individuals was studied. The frequencies of ACE genotypes were found to be 47.0% for DD, 30.3% for ID, and 22.7% for II in the COPD group and 32.5% for DD, 47.5% for ID, and 20.0% for II in the control group. The allele frequencies were found to be 0.62% for the D allele and 0.38% for the I allele in the COPD group and 0.56% for the D allele and 0.44% for the I allele in the control group. A significant difference was found between I and D allele frequencies (P < 0.05) of the study and control groups. Our results suggest that this ACE polymorphism may be associated with the development of COPD.

Angiotensin-converting enzyme gene insertion/deletion polymorphism with metabolic syndrome in Turkish patients.

BACKGROUND: The ACE gene has received substantial attention in recent years as candidate for a variety of diseases. The most common polymorphism in ACE gene is the Insertion/Deletion (I/D, rs4646994) polymorphism located on intron 16. AIM: We investigated the association between metabolic syndrome (MS) and the insertion (I) - deletion (D) polymorphisms in the angiotensin converting enzyme (ACE) gene in south-east of Turkey. SUBJECTS AND METHODS: One hundred and sixty subjects, with 101 cases of MS and 59 age- and gender-matched healthy controls were included in the study. RESULTS: The frequency of ACE I/D polymorphism was found to be 49.5% for DD, 36.6% for ID, and 13.9% for II in the MSstudy group and 44.1% for DD, 42.4% for ID and 13.5% for II in the control group. Allele frequencies were found to be 0.68% for D and 0.32% for I allele in the study group with MS and 0.65% for D, 0.35% for I allele in the control group. The I/D polymorphism of the ACE gene, DD, ID, and II genotypes occurred with similar frequencies in the study group with MS and the control group with no significant differences (p<0.05). On applying one-way analysis of variance to different ACE gene polymorphic groups in patients with MS were not significantly associated to ACE gene polymorphism and waist circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, HDL, and LDL (p<0.05). CONCLUSIONS: Further studies of patients in larger numbers and of different ethnic backgrounds may be necessary to elucidate the association between the ACE I/D gene polymorphism and MS.

Chromosome heteromorphisms are more frequent in couples with recurrent abortions.

Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.

Surgical treatment of mediastinal cysts: report on 29 cases.

AIM: Mediastinal cysts are rare, forming 12-18% of all primary mediastinal tumors. The purpose of this study is to evaluate type, clinical properties, treatment modalities, and results of mediastinal cystic neoplasm in the light of available literature. PATIENTS AND METHODS: We retrospectively investigated 29 patients who were diagnosed and surgically treated for mediastinal cysts in our clinic between January 1996 and May 2011. RESULTS: Sixteen (55.2%) patients were male and 13 (44.8%) were female. The average age of the patients was 36.5 +/- 22.1 (17-77 years old). The mediastinal cysts comprised 11 (37.9%) bronchogenic cysts; seven (24.1%) hydatid cysts; four (13.8%) benign cystic teratomas; three (10.3%) pericardial cysts; one (5.3%) thymic cyst; one (5.3%) cyst of the thoracic duct; one (5.3%) enteric cyst; and one (5.3%) lymphangioma. Approach methods were thoracotomy in 18 (62.1%) cases; video-assisted thoracoscopicsurgery (VATS) in seven (24.1%) cases; median sternotomy in three (10.3%) cases; and anterior mediastinotomy in one case. Postoperative observations during the follow-up period showed chylothorax in one patient; pleural effusion in one patient; and the recurrence of a bronchogenic cyst in one patient five years after the operation. Postoperative mortality did not occur in any case. The average postoperative hospitalization period was 7.3 days (2-14 days). CONCLUSION: A surgical approach to mediastinal cysts offers histological analysis, pathological diagnosis, curative treatment, and prevention from complications.

Association of the PTPN22 gene polymorphism with autoantibody positivity in Turkish rheumatoid arthritis patients.

The PTPN22 C1858T gene polymorphism has been recently reported to be associated with rheumatoid arthritis (RA) in European and North American ancestry. In contrast, the frequency of PTPN22 C1858T polymorphism is extremely rare in Asian and African populations. As the genetic heterogeneity between populations is clearly present in RA, we wanted to investigate whether the PTPN22 C1858T polymorphism is associated with RA in Turkey and with autoantibody positivity. A total of 323 RA patients and 426 healthy controls were genotyped by polymerase chain reaction restriction fragment length polymorphism for the PTPN22 C1858T polymorphism (rs2476601). The frequencies of heterozygote genotype (CT) were 8.4% in RA patients and 5.4% in the healthy controls, respectively [odds ratio (OR): 1.6, P = 0.14]. The homozygote genotype (T/T) was absent in both RA patients and the healthy controls. When compared with the healthy controls, we found the significant associations between the frequency of PTPN22 heterozygote (CT) polymorphism and RA patients with RF positivity and anti-CCP positivity, respectively (OR: 2.05, P = 0.04 and OR: 2.1, P = 0.03, respectively). Our study suggests that the PTPN22 C1858T polymorphism acts as a susceptibility gene for autoantibody-positive RA in Turkey.

A new risk factor in oesophageal cancer aetiology: hyperthyroidism.

PURPOSE: In individuals with malignant disease, many qualitative and quantitative hormonal changes have been detected. Although there are many studies showing that there is a relationship between thyroid hormone disorders and certain tumours, no study investigating the association between oesophageal cancer and thyroid diseases has been reported. The present study was designed to evaluate whether there is a relationship between oesophageal cancer and thyroid hormones. METHODS: In a prospective study conducted between December 2006 and February 2008, thyroid functions were studied in a group of 102 sequential patients with oesophageal cancer and a control group of 160 sequential patients without oesophageal cancer, presenting to the Thoracic Surgery Department of Ataturk University. Age, gender, tumour location and histological type in patients with oesophageal cancer were recorded. RESULTS: Of 102 patients with oesophageal cancer, 21 (20.58%) had hyperthyroidism, 2 (1.96%) had hypothyroidism and 6 (5.88%) exhibited nodular/multinodular goitre on ultrasonography and computed tomography. In the control group, 8 patients (5.0%) had hyperthyroidism, 4 (2.5%) had hypothyroidism and 7 (4.38%) showed nodular/multinodular goitre. In patients with oesophageal cancer, the incidence of hyperthyroidism was found to be significantly higher compared to the control group (p < 0.001). CONCLUSION: Data show that there may be an important relationship between oesophageal cancer and hyperthyroidism. We believe that thyroid hormone levels should be measured in all cases of oesophageal cancer. In further prospective and experimental studies, the physiopathology of this relationship can be fully explained.

Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey.

We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.

The use of self-expandable metallic stents for palliative treatment of inoperable esophageal cancer.

Most patients with esophageal carcinoma present in the advanced stage die from tumor invasion and widespread metastases. Because radical regimens are not appropriate for the majority of patients, and their expected survivals are as short as to be measured by months, the main aim of therapy is palliation with minimum morbidity and mortality. Among the palliative modalities are surgery, external radiotherapy or brachytherapy, dilatation, laser, photodynamic therapy, bipolar electrocoagulation tumor probe, and chemical ablation. The placement of self-expandable metallic stents is another method that improves dysphagia for these patients. In this study, the aim was to evaluate retrospectively the effectiveness of metallic stents deployed because of inoperable malignant esophageal stenosis and esophagotracheal fistulas. The results of 170 patients with 202 stents administered because of inoperable malignant esophageal stenosis and esophagorespiratory fistula between January 2000 and October 2008 at the Ataturk University, Department of Thoracic Surgery, were investigated. Despite epidemiological and clinical data, information regarding relief of dysphagia and quality of life were also examined. One hundred seventy patients with stents were between 28 and 91 years old (mean age 63.7 years+/-11.4 years). Ninety-seven were male and 73 were female. Stent indications were advanced tumors with distant metastasis (82 cases, 48.2%), unresectable tumors (51 cases, 30%), patients who cannot tolerate surgery or chemoradiotherapy (18 cases, 10.5%), local recurrence after primary therapy (1 case, 0.5%), esophagorespiratory fistulas from tumor or therapy (14 cases, 8.2%), and refusal of surgery (4 cases, 2.3%). Dysphagia scores evaluated by a modified Takita's grading system improved from 3.4 before the procedure to 2.6 afterward. The overall complication rate without chest pain was 31.7% (occurring in 64 cases). Mean survival was 177.7 days+/-59.3 days (2-993 days). Quality-of-life scores (The European Organization of Research and Treatment of Cancer QLQ C30) improved from 73+/-10.3 (57-85) to 112+/-12.6 (90-125). In therapy of malignant esophageal obstructions, metallic stents provide a significant improvement in dysphagia and require less frequent re-intervention according to other methods of dysphagia palliation such as dilatation, laser, and photodynamic therapy, nearly completely relieve esophagotracheal fistulas and improve quality of life to an important degree.

Muco-epidermoid carcinoma of the oesophagus: a case report.

Muco-epidermoid carcinomas (MECs) are typically located in the salivary, lacrimal and tracheobronchial glands. However, they can also be present in the oesophagus. Primary MECs of the oesophagus account for 0.05% to 2.2% of all cases of primary oesophageal cancer. Treatment for this tumour has primarily been surgical resection. In this report we present the surgical and pathological findings of a primary MEC of the oesophagus in an 82-year-old woman and review the management options for this tumour.

Total occlusion of the superior vena cava due to bronchogenic cyst.

Bronchogenic cysts are the most common form of congenital cystic lesions in the mediastinum. Of all cases with bronchogenic cysts, 1/3 are symptomatic. The symptoms vary depending on the location and compression of the adjacent structures of the cyst. Some mediastinal bronchogenic cysts can cause severe respiratory distress due to airway and vascular compression. We herein present a case with a bronchogenic cyst that required venoplasty to the superior vena cava (SVC) due to total occlusion of the SVC.

Current management of esophageal perforation: 20 years experience.

Esophageal perforations are surgical emergencies associated with high morbidity and mortality rates. No single strategy has been sufficient to deal with the majority of situations. We aim to postulate a therapeutic algorithm for this complication based on 20 years of experience and also on data from published literature. We performed a retrospective clinical review of 44 patients treated for esophageal perforation at our hospital between January 1989 and May 2008. We reviewed the characteristics of these patients, including age, gender, accompanying diseases, etiology of perforation, diagnosis, location, time interval between perforation and diagnosis, treatment of the perforation, morbidity, hospital mortality, and duration of hospitalization. Perforation occurred in the cervical esophagus in 14 patients (31.8%), thoracic esophagus in 18 patients (40.9%), and abdominal esophagus in 12 patients (27.3%). Management of the esophageal perforation included primary closure in 23 patients (52.3%), resection in 7 patients (15.9%), and nonsurgical therapy in 14 patients (31.8%). In the surgically treated group, the mortality rate was 3 of 30 patients (10%), and 2 of 14 patients (14.3%) in the conservatively managed group. Four of the 14 nonsurgical patients were inserted with covered self-expandable stents. The specific treatment of an esophageal perforation should be selected according to each individual patient. To date, the most effective treatment would appear to be operative management. With improvements in endoscopic procedures, the morbidity and mortality rates of esophageal perforations are significantly decreased. We suggest that minimally invasive techniques for the repair of esophageal perforations will be very important in the future treatment of this condition.