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1.
Opt Express ; 24(25): 28731-28738, 2016 Dec 12.
Article in English | MEDLINE | ID: mdl-27958516

ABSTRACT

We report an efficient energy-time entangled photon-pair source based on four-wave mixing in a CMOS-compatible silicon photonics ring resonator. Thanks to suitable optimization, the source shows a large spectral brightness of 400 pairs of entangled photons /s/MHz for 500 µW pump power, compatible with standard telecom dense wavelength division multiplexers. We demonstrate high-purity energy-time entanglement, i.e., free of photonic noise, with near perfect raw visibilities (> 98%) between various channel pairs in the telecom C-band. Such a compact source stands as a path towards more complex quantum photonic circuits dedicated to quantum communication systems.

2.
Genet Couns ; 27(3): 357-365, 2016.
Article in English | MEDLINE | ID: mdl-30204964

ABSTRACT

The 17q21.31 microdeletion syndrome is characterized by intellectual disability, epilepsy, facial dysmorphism and friendly behavior. Recently, KANSLJ gene has been considered as a major causal gene for this phenotype. Here we report on two Turkish patients with different seizure types and additional dysmorphic features associated with 17q21.31 microdeletion syndrome. A 4 year-old female patient with generalized tonic-clonic seizures, mild mental retardation, dysmorphic features and friendly behavior and a 14 years-old female with intractable epilepsy, different dysmorphic features, severe mental and motor retardation and self-mutilation were evaluated by array-based comparative genomic hybridization (microarray CGH). Array CGH identified 17q21.31 microdeletion that contains MAP7 CRHR1, KANSLI, PLEKHMI genes in case I and CRHR1, PLEKHM but not KANSLJgenes in case 2. To the best of our knowledge this is the first report of a patient with the 17q21.31 microdeletion which does not encompass KANSLI gene. These data imply another gene or genes causing similar phenotype in this patient.


Subject(s)
Abnormalities, Multiple/genetics , Craniofacial Abnormalities/genetics , Drug Resistant Epilepsy/genetics , Epilepsy, Tonic-Clonic/genetics , Intellectual Disability/genetics , Abnormalities, Multiple/diagnosis , Adolescent , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 17/genetics , Craniofacial Abnormalities/diagnosis , Drug Resistant Epilepsy/diagnosis , Epilepsy, Tonic-Clonic/diagnosis , Female , Genotype , Haploinsufficiency/genetics , Humans , Intellectual Disability/diagnosis , Nuclear Proteins/genetics , Phenotype , Self Mutilation/diagnosis , Self Mutilation/genetics
3.
Genet Couns ; 25(1): 53-62, 2014.
Article in English | MEDLINE | ID: mdl-24783656

ABSTRACT

OBJECTIVE: This study explored the social factors affecting prenatal decision making, the impact of genetic counseling on prenatal decision making, and how genetic counseling is perceived by Turkish women. METHOD: A standardized questionnaire was given to 231 patients, before and after genetic counseling, at Hacettepe University Ihsan Dogramaci Children's Hospital in 2007-2008. RESULTS: The level of education was an important factor both in prenatal decision making and in the patients' perception of genetic counseling. Decisions of pregnancy termination differed by geographic region of referral and history of healthy children but the differences were not statistically significant. The decisions were not influenced by poor obstetric history, number and sex of previous children, and disability of previous children. CONCLUSION: The level of education and the geographic region of referral in Turkey had an effect on the prenatal decisions and on the amount of prenatal genetic counseling received by the individuals.


Subject(s)
Decision Making , Genetic Counseling/psychology , Health Knowledge, Attitudes, Practice , Prenatal Diagnosis/psychology , Adult , Educational Status , Female , Humans , Pregnancy , Surveys and Questionnaires , Turkey
4.
Am J Med Genet A ; 164A(1): 99-105, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24259304

ABSTRACT

Fragile X syndrome (FXS) is the most common hereditary disorder of intellectual disability. Cognitive deficits involve executive function, attention, learning and memory. Advanced neuroimaging techniques are available, and (1)H magnetic resonance spectroscopy (MRS) can be used as a complementary method to MR imaging to understand disease processes in brain, by in vivo demonstration of brain metabolites. MRS was performed in 13 male patients with FXS full mutation, and 13 age- and sex-matched healthy controls. FXS diagnosis was based on clinical evaluation, followed by detection of FMR1 full mutation. Axial T2 TSE, sagittal T1 SE and coronal 3D MPRAGE images were obtained for both morphological imaging and voxel localization. Following evaluation of conventional images, multivoxel MRS (CSI) through supraventricular white matter and single voxel MRS (svs) with an intermediate echo time (TE:135 ms) from the cerebellar vermis were performed. Choline/Creatine (Cho/Cr), N-acetyl aspartate/Creatine (NAA/Cr), and Choline/N-acetyl aspartate (Cho/NAA) ratios were examined at right frontal (RF), left frontal (LF), right parietal (RP), left parietal (LP), and cerebellar vermian (C) white matter. Statistical analyses were done using t-test and Mann-Whitney U tests. A statistically significant difference was observed in RP Cho/NAA ratio (cell membrane marker/neuroaxonal marker), FXS patients having lower levels than controls (P = 0.016). The results should be evaluated cautiously in parallel to consequences in brain metabolism leading to alterations in neurotransmitter levels, osmoregulation, energy metabolism and oxidative stress response described in animal models. MRS may serve to define a metabolic signature and biomarkers associated with FXS.


Subject(s)
Brain/metabolism , Brain/pathology , Fragile X Syndrome/metabolism , Fragile X Syndrome/pathology , Magnetic Resonance Spectroscopy , Aspartic Acid/analogs & derivatives , Aspartic Acid/metabolism , Case-Control Studies , Child , Child, Preschool , Choline/metabolism , Creatine/metabolism , Fragile X Syndrome/diagnosis , Humans , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy/methods , Male , Metabolome , Metabolomics/methods
5.
Mol Syndromol ; 2(2): 64-71, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22511893

ABSTRACT

Intellectual disability (ID) has a prevalence of 2-3% with 0.3% of the population being severely retarded. Etiology is heterogeneous, owing to numerous genetic and environmental factors. Underlying etiology remains undetermined in 75-80% of mildly disabled patients and 20-50% of those severely disabled. Twelve percent of all ID is thought to be X-linked (XLID). This study covers copy number analysis of some of the known XLID genes, using multiplex ligation-dependent probe amplification (MLPA) in 100 nonsyndromic patients. One of the patients was found to have duplication in all exons of MECP2 gene, and another had duplication in the fifth exon of TM4SF2/TSPAN7 gene. Affymetrix® 6.0 whole-genome SNP microarray confirmed the duplication in MECP2 and showed duplication of exons 2-7 in TM4SF2/TSPAN7, respectively. MECP2 duplication has recently been recognized as a syndromic cause of XLID in males, whereas duplications in TM4SF2/TSPAN7 are yet to be determined as a cause of XLID. Being an efficient, rapid, easy-to-perform, easy-to-interpret, and cost-effective method of copy number analysis of specific DNA sequences, MLPA presents wide clinical utility and may be included in diagnostic workup of ID, particularly when microarrays are unavailable as a first-line approach.

6.
Genet Couns ; 22(4): 401-9, 2011.
Article in English | MEDLINE | ID: mdl-22303801

ABSTRACT

Termination of pregnancy (ToP) raises ethical dilemmas. Although ToP for fetal disorders is commonly approved by health professionals, their opinions and attitudes are influenced by a diversity of cultural contexts. The aim of the study is to investigate Turkish physicians' opinions on ToP for fetal disease and the hypothesis is that their opinions are influenced by whether they face any disabilities of affected children or not. We aimed to survey by a questionnaire the opinions of Turkish physicians towards ToP for untreatable fetal disorders. A group of 250 subjects was included in the study. Physicians' approval of parents' decision for ToP was higher for disorders that they encounter more frequently during their daily work. Their opinions were not statistically different when compared for gender and marital status, however, having children of their own caused significant differences for some of the disorders. Approximately 65% of the participants responded that families alone should have the right to decide on ToP. The results confirm that health professionals may have differences in perception of severity of diseases, based on their clinical experience. Physicians encountering affected children more likely approve ToP for that particular disease.


Subject(s)
Abortion, Eugenic/ethics , Attitude of Health Personnel , Ethics, Medical , Fetal Diseases/diagnosis , Students, Medical/psychology , Data Collection , Decision Making , Female , General Practice , Humans , Infant, Newborn , Male , Medicine , Pregnancy , Turkey
7.
Gynecol Oncol ; 119(1): 131-5, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20638108

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate the prevalence and spectrum of a known founder mutation, 5382insC and large genomic rearrangements (LGRs) in BRCA1 in ovarian cancer patients in Turkey. The additional aim was to determine the genetic testing strategy in Turkish breast/ovarian cancer family. METHODS: Six hundred and sixty-seven ovarian cancer patients from five large geographical regions in Turkey, 61 of which had family history of breast/ovarian cancer, were tested for the mutation 5382insC by mutagenically separated polymerase chain reaction and direct sequencing of the entire coding sequence and the splicing sites. Additionally, multiplex ligation-dependent probe amplification (MLPA) was performed for large mutational scanning of BRCA1 gene in unselected ovarian cancer. RESULTS: In this study, BRCA1 point mutations were observed in 1% of all patients and 9.8% of familial cases: 5382insC, unique novel missense variant-G1748S and unclassified splice site variant IVS20+5A>T. 5382insC was observed in two patients. However, G1748S, previously unreported, was found in four patients and thus led to the conclusion that this mutation may be unique to Turkey. A splice site variant, IVS20+5A>T, was detected in three patients, with two of them including G1748S and IVS20+5A>T, together. Using MLPA, six different distinct LGRs in BRCA1 were observed: the deletion of E1A-1B-2, E11, E17-19, E18 and E18-19 and duplication of E5-9. The prevalence of LGRs in this study was 40.9% among patients with family history. The deletion of E1A-1B-2 was the common mutation, and patients with this deletion were referred to us from four different geographical regions in Turkey. Therefore, it was hypothesized that this deletion covering E1-2 is common in Turkey. CONCLUSION: LGRs in BRCA1 were strongly associated with positive family history among the Turkish population. On the basis of these findings, it can be recommended that a low-cost screening for LGRs in BRCA1 may be the first-line mutation detection method in families with strong breast/ovarian cancer history in Turkey.


Subject(s)
Gene Rearrangement , Genes, BRCA1 , Ovarian Neoplasms/genetics , Point Mutation , Case-Control Studies , DNA, Neoplasm/blood , DNA, Neoplasm/genetics , Female , Humans , Middle Aged , Ovarian Neoplasms/blood , Turkey
8.
Genet Couns ; 18(3): 277-88, 2007.
Article in English | MEDLINE | ID: mdl-18019368

ABSTRACT

Goldenhar syndrome (GS) or oculoauriculovertebral dysplasia (OAVD) is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities and vertebral anomalies of different size and shape. The phenotypical findings of this syndrome are variable due to heterogenous aetiology. For that reason, the physician sometimes faces difficulty when making a definite diagnosis of OAVD. We reviewed the clinical and laboratory findings of 31 patients (15 boys and 16 girls) aged from 1 day to 16 years with the clinical diagnosis of GS. The characteristic features were pre-auricular skin tags (90%), microtia (52%), hemifacial microsomia (77%) and epibulbar dermoids (39%). Vertebral anomalies were noted in 70% of the patients. Cardiac malformations were found in 39% while a genitourinary anomaly was noted in 23% and various central nervous system malformations in 47%. There were 3 pregnancies following an intracytoplasmic sperm injection (ICSI) technique among the 31 patients. Two patients with GS came from the same family. Their relatives had hydrocephaly, myelomeningocele and neural tube defects. It is known that some chromosomal aberrations are seen in GS. We performed chromosome analysis of 29 patients. Among these cases, only one patient with severe mental and motor retardation had a 47,XX,+der(22)t(11,22)(q23; q11 karyotype due to a maternal balanced translocation t(11;22)(q23;q11). This translocation was demonstrated in her sister, brother and maternal uncle. Additionally CATCH 22 analysis in 13 cases with OAVD with a CATCH 22 phenotype revealed no deletion. OAVD patients present with different morphologic features and systemic manifestations. A multidisciplinary approach should be undertaken by departments such as pediatric cardiology, audiology, ophthalmology and plastic surgery when evaluating patients with OAVD. Chromosome analysis should be performed in every patient with Goldenhar syndrome.


Subject(s)
Goldenhar Syndrome/genetics , Goldenhar Syndrome/physiopathology , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Adolescent , Child , Child, Preschool , Female , Goldenhar Syndrome/diagnostic imaging , Humans , Infant , Infant, Newborn , Male , Phenotype , Radiography
9.
Cytogenet Genome Res ; 118(1): 31-7, 2007.
Article in English | MEDLINE | ID: mdl-17901697

ABSTRACT

Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC(13) and sSMC(15) had inverted duplicated shapes and the sSMC(2) a ring chromosome shape. All three cases were clinically severely abnormal. A review of the available sSMC literature revealed that up to the present 73 neocentric sSMC cases including these three new cases have been reported. Seven of these cases were not characterized morphologically; in the remainder, 80% had an inverted duplication, 17% a ring and 3% a minute shape. 81% of the reported neocentric sSMC carriers showed severe, 12% moderate and 8% no clinical abnormalities. In summary, we report three more neocentric sSMC cases, provide a review on all up to now published cases, highlight their special characteristics and compare them to centric sSMC.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 2 , Child , Chromosome Banding , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping
10.
Genet Couns ; 18(2): 171-7, 2007.
Article in English | MEDLINE | ID: mdl-17710869

ABSTRACT

Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype. Monosomy 21 is a rare cytogenetic aberration for which clinical features were incompletely defined since full monosomy 21 is incompatible with life. A 5-year-old male patient with FXS and low-grade mosaicism for full monosomy 21 (46,XY[96%]/45,XY,-21[4%]) is presented. He had lack of speech and severely impaired social skills, hyperactivity, stereotypical hand movements, a special interest towards moving colourful items and a short attention span for other objects around. He had macrocephaly, a rather long face, prominent occiput and prominent midface, retrognathia, down-slanting palpebral fissures, hypertelorism and cup-shaped, posteriorly rotated and low-set ears. Full monosomy in the aberrant cell line was proven by whole chromosome painting. FXS was previously reported to accompany sex chromosome aneuploidies; however, to the best of our knowledge, the present patient is the first FXS patient with an aberration involving autosomes. He contributes to the current knowledge on monosomy 21 phenotype, having dysmorphic facial findings despite the concurrent phenotypic expression of the FXS. As a last conclusion, cytogenetic analysis must be done to all mentally retarded patients with minor dysmorphic features.


Subject(s)
Chromosomes, Human, Pair 21/genetics , Craniofacial Abnormalities/genetics , Fragile X Syndrome/genetics , Intellectual Disability/genetics , Monosomy/genetics , Mosaicism , Child, Preschool , Chromosome Aberrations , Chromosome Painting , Comorbidity , Craniofacial Abnormalities/diagnosis , Facies , Fragile X Syndrome/diagnosis , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability/diagnosis , Male , Phenotype
11.
Prenat Diagn ; 27(9): 865-71, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17605151

ABSTRACT

We report on two cases with partial trisomy 1q syndrome. One case was a mid-trimester fetus with multiple malformations that was prenatally diagnosed with a de novo distal partial trisomy 1q. Prenatal ultrasound at 24th gestational week demonstrated the presence of cleft lip and palate, increased biparietal diameter and decreased abdominal circumference. Cytogenetic analysis (GTG banding) and subsequent fluorescence in situ hybridization (FISH) using whole chromosome paint 1 and multicolor banding (MCB) demonstrated an aberrant karyotype 46,XY,dup(1)(q31q43 approximately 44). The second case was a newborn male infant with multiple congenital malformations. He had a derivative chromosome 18 as a result of a maternal insertion involving chromosomes 1 and 18. Further analyses including MCB showed his karyotype as 46,XY,ins(18;1)(q22;q23q31.1 approximately 32). The present cases and a review of the literature suggest that partial trisomy of the long arm of chromosome 1 is a distinct clinical entity.


Subject(s)
Chromosomes, Human, Pair 1 , Trisomy/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 18 , Clonal Deletion , Cytogenetic Analysis , Female , Humans , Hypertelorism/genetics , Infant , Male , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
13.
J Intellect Disabil Res ; 51(Pt 2): 151-61, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17217479

ABSTRACT

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. METHODS: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. RESULTS: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients. CONCLUSIONS: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.


Subject(s)
Fragile X Syndrome/therapy , Patient Care Team , Patient Care/methods , Aortic Diseases/diagnosis , Aortic Diseases/epidemiology , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/epidemiology , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , Comorbidity , Diagnostic and Statistical Manual of Mental Disorders , Fragile X Syndrome/epidemiology , Hearing Loss, Conductive/diagnosis , Hearing Loss, Conductive/epidemiology , Humans , Male , Mental Disorders/epidemiology , Mental Disorders/psychology , Mitral Valve Prolapse/diagnosis , Mitral Valve Prolapse/epidemiology , Refractive Errors/diagnosis , Refractive Errors/epidemiology , Seizures/epidemiology , Strabismus/diagnosis , Strabismus/epidemiology , Surveys and Questionnaires
14.
Genet Couns ; 17(2): 205-9, 2006.
Article in English | MEDLINE | ID: mdl-16970039

ABSTRACT

Chromosomal imbalance affecting the long arm of chromosome 4 has been reported in a variety of distinct clinical conditions. Common clinical findings have been described for 4q deletions distal to 4q33 and termed as 4q terminal deletion syndrome. We report two children with de novo chromosomal abnormality consisting of a terminal deletion (q33qter) of chromosome 4 in mosaic form. The phenotypes of these two patients are very similar to that described in the literature, but milder because of the mosaic nature of cytogenetic abnormality.


Subject(s)
Autistic Disorder/genetics , Chromosome Deletion , Chromosomes, Human, Pair 4/genetics , Intellectual Disability/genetics , Mosaicism , Trisomy/genetics , Autistic Disorder/complications , Child, Preschool , Consanguinity , Epilepsy, Generalized/complications , Female , Humans , Hypertelorism/complications , Hypertelorism/genetics , Intellectual Disability/complications , Male , Microcephaly/complications , Microcephaly/genetics
15.
Int J Gynecol Cancer ; 16(3): 1407-11, 2006.
Article in English | MEDLINE | ID: mdl-16803538

ABSTRACT

The cytochrome P4501A1 (CYP1A1) is involved in the metabolism of environmental carcinogens and estrogen. We hypothesized that CYP1A1 genetic polymorphism may be a susceptibility factor for endometrial hyperplasia (EH) and endometrial carcinoma (ECa). We therefore evaluated this hypothesis in patients with EH and ECa and control subjects using allele-specific polymerase chain reaction-based method in a Turkish population. The patients with CYP1A1 Ile/Val genotype had a fivefold higher risk of having EH than those with Ile/Ile. In contrast, a higher frequency of any Val genotype (Ile/Val and Val/Val) was found in patients with EH, indicating that persons carrying any Val allele are at increased risk for developing EH. In the ECa group, patients were also more likely to have CYP1A1 Ile/Val allele, with an adjusted odds ratio of 3.0. Moreover, there was a statistically significant increase in relative risk association with any Val genotype between patients and controls, suggesting that individuals carrying any Val genotype are at increased risk for developing ECa. We concluded that variant alleles of the CYP1A1 gene might be associated with EH and ECa susceptibility. Further studies with a large sample size should be considered to address issues of interactions between CYP1A1 and other risk factors.


Subject(s)
Cytochrome P-450 CYP1A1/genetics , Endometrial Hyperplasia/genetics , Endometrial Neoplasms/genetics , Polymorphism, Genetic , Adult , Aged , Carcinoma, Endometrioid/epidemiology , Carcinoma, Endometrioid/genetics , Case-Control Studies , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Middle Aged , Risk Factors
16.
J Eur Acad Dermatol Venereol ; 18(5): 630-3, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15324414

ABSTRACT

Lichen planus (LP) is a T-cell-mediated disorder that may involve the skin, nails and mucosal surfaces. Conjunctival, laryngeal and oesophageal involvement were reported to be extremely rare manifestations of the disease. In this report, we present an oral LP case who complained of severe burning pain on his tongue and oral mucosa caused by ulcerative lesions and associated with conjunctival, laryngeal and oesophageal involvement. In addition, neurological examination revealed facial and abducens nerve palsy. To the best of our knowledge, we are presenting the first case of erosive oral LP associated with facial and abducens nerve paralysis. Although this association may be coincidental, according to an immunological concept proposed to explain the pathogenesis of Bell's palsy, degranulation of mast cells activated by complement or specific allergens with the release of histamine and other substances were to be presented responsible from nerve oedema, ischaemia and paralysis. As mast cell mediators are likely to be involved in the immunopathogenesis of OLP, we think that the cause of facial and bilateral abducens nerve palsy could be explained by the same mechanism. This case is a good example of the need for team work in lichen planus patients undergoing interdisciplinary consultations.


Subject(s)
Abducens Nerve Diseases/diagnosis , Conjunctivitis/diagnosis , Esophageal Diseases/diagnosis , Facial Nerve Diseases/diagnosis , Lichen Planus, Oral/diagnosis , Abducens Nerve Diseases/complications , Administration, Cutaneous , Adult , Conjunctivitis/complications , Conjunctivitis/pathology , Cyclosporine/administration & dosage , Diagnosis, Differential , Endoscopy, Digestive System , Esophageal Diseases/complications , Esophageal Diseases/pathology , Facial Nerve Diseases/complications , Humans , Immunosuppressive Agents/administration & dosage , Lichen Planus, Oral/complications , Lichen Planus, Oral/drug therapy , Lichen Planus, Oral/pathology , Male , Ophthalmic Solutions
17.
Leuk Lymphoma ; 42(4): 665-74, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11697496

ABSTRACT

Thirty-three children diagnosed with primary myelodysplastic syndrome (MDS) in a single institution over an 8 year period were evaluated with special emphasis on children who presented with extramedullary disease (EMD). EMD was present at diagnosis in 12 (36%) of the 33 children with MDS. Three patients with juvenile myelomonocytic leukemia (JMML) and 2 patients with chronic myelomonocytic leukemia (CMML) presented with pleural effusion. Pericardial effusion was present in 3 of these patients, two of whom also had thrombosis. Pyoderma gangrenosum, relapsing polychondritis were the initial findings in another two cases with JMML. Lymphadenopathy (n=1), gingival hypertrophy (n=2), orbital granulocytic sarcoma (n=1) and spinal mass (n=1) were the presenting findings in 5 patients with refractory anemia with excess of blasts in transformation. Since high-dose methylprednisolone (HDMP, 20-30 mg/kg/day) has been shown to induce differentiation and apoptosis of myeloid leukemic cells in children with different morphological subtypes of acute myeloid leukemia in vivo and in vitro, 25 children with de novo MDS were treated with combined HDMP and cytotoxic chemotherapy. Dramatic improvement of EMD and decrease in blast cells both in the peripheral blood and bone marrow were obtained following administration of short-course HDMP treatment alone as observed in children with AML. HDMP, combined with low-dose cytosine arabinoside and mitoxantrone were used for the remission induction. Remission was achieved in 8 (80%) of 10 children who presented with EMD and in 9 (60%) of 15 children without EMD. Long-term remission (>6 years) was obtained in 4 (two with JMML and two with CMML), three of whom presented with EMD. In conclusion EMD can be a presenting finding in childhood MDS as observed in adults. In addition, the beneficial effect of HDMP combined with more intensive chemotherapy should be explored as alternative therapy in children with MDS not suitable for bone marrow transplantation.


Subject(s)
Myelodysplastic Syndromes/drug therapy , Myelodysplastic Syndromes/pathology , Adolescent , Anti-Inflammatory Agents/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Leukemia, Myelomonocytic, Chronic/diagnosis , Leukemia, Myelomonocytic, Chronic/drug therapy , Male , Methylprednisolone/administration & dosage , Myelodysplastic Syndromes/diagnosis , Prospective Studies , Remission Induction , Sarcoma, Myeloid/diagnosis , Sarcoma, Myeloid/drug therapy , Treatment Outcome
18.
J Laryngol Otol ; 115(7): 535-40, 2001 Jul.
Article in English | MEDLINE | ID: mdl-11485582

ABSTRACT

Cosmetic outcome of the columellar incision closure in external rhinoplasty patients has been a subject of discussion. This study was conducted to assess whether tissue adhesives provide an alternative option for sutureless closure of columellar skin incisions for cases utilizing open technique rhinoplastic surgery. One hundred and one patients undergoing external rhinoplasty were randomized to either topical application of butylcyanoacrylate or polypropylene sutures for columellar skin closure. The majority of tension on the wound edges was taken up using 5-0 chromic catgut. Cosmetic outcomes were evaluated by two otolaryngologists independently using visual analogue and Hollander wound evaluation scales in a blinded manner. There was no statistically significant difference in cosmesis between the surgeons' evaluation scores for either type or repair of the columellar incision. Since the tissue adhesive forms its own protective barrier, post-operative care is simplified. Closure with adhesives eliminates the need for post-operative suture removal requiring an extra visit that should lead to more efficient use of physician and patient time. Butylcyanoacrylate performs cosmetically as well as standard suture closure of columellar skin incision used for external rhinoplasty.


Subject(s)
Enbucrilate/therapeutic use , Rhinoplasty/methods , Adolescent , Adult , Esthetics , Female , Follow-Up Studies , Humans , Male , Single-Blind Method , Sutures , Treatment Outcome , Wound Healing
19.
Am J Perinatol ; 18(4): 179-83, 2001 Jun.
Article in English | MEDLINE | ID: mdl-11444361

ABSTRACT

At 17th week of pregnancy, a 28-year-old woman was diagnosed as having herpes simplex encephalitis and treated with intravenous acyclovir. Follow-up by the serial ultrasound examinations, intrauterine growth retardation (IUGR) was found. During the course of disease, cordocentesis was performed to evaluate the risk of the disease and the infant's chromosomal constitution. No herpes simplex virus infection on cord blood sample was observed; however, chromosomal analysis revealed: 46,XX/47,XX,+2/47,XX,+11/47,XX,+19/48,XX,+11. After termination of pregnancy, the fetus was found as having ventricular septum defect. The presence of the triploid cell lines mocaicism involving chromosome 2 and 19 were confirmed by the analysis of fetal skin tissues. No attributable finding to herpes simplex virus infection and acyclovir treatment was found, and the presence of the triploid cell lines mocaicism were appeared to be purely coincidental.


Subject(s)
Acyclovir/adverse effects , Acyclovir/therapeutic use , Encephalitis, Herpes Simplex/drug therapy , Mosaicism/diagnosis , Mosaicism/genetics , Adult , Chromosome Aberrations , Chromosomes, Human, Pair 11/genetics , Chromosomes, Human, Pair 19/genetics , Chromosomes, Human, Pair 2/genetics , Female , Humans , Pregnancy , Prenatal Diagnosis , Trisomy/genetics
20.
Cancer Genet Cytogenet ; 126(2): 166-8, 2001 Apr 15.
Article in English | MEDLINE | ID: mdl-11376811

ABSTRACT

Tetrasomy 8 is a relatively rare chromosomal abnormality in hematological disorders, and is mostly associated with myeloid malignancies and poor prognosis. In a number of cases, tetrasomy 8 has been reported as an accompanying anomaly with other chromosomal changes. In this report, we describe a 14-year-old girl with acute megakaryoblastic leukemia associated with tetrasomy 8 (primary) and trisomy 6, 19 and 20. She died 6 months after diagnosis, suggesting a relatively poor prognosis for AML with tetrasomy 8. To the best of our knowledge, this is the first report of a tetrasomy 8 abnormality associated with subtype FAB M7. Interestingly, this abnormality has not been previously reported in childhood AML patients.


Subject(s)
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 8 , Leukemia, Megakaryoblastic, Acute/genetics , Adolescent , Female , Humans , Karyotyping
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