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1.
Zhonghua Shao Shang Za Zhi ; 36(8): 746-747, 2020 Aug 20.
Article in Chinese | MEDLINE | ID: mdl-32829618

ABSTRACT

On April 26, 2018, a 55-year-old male patient with severe phenol burn complicated with acute poisoning was admitted to the Second Affiliated Hospital of Zhejiang University School of Medicine. The patient quickly developed the symptoms of central nervous system including blurred consciousness and restlessness, anuria, and respiratory failure. After self-rescue before admission and a series of measures in hospital including wound decontamination to reduce phenol absorption, rapid massive infusion and hemodialysis+ hemoperfusion, continuous renal replacement therapy for speeding up phenol excretion and organ function maintenance, the poisoning symptoms were effectively alleviated, and the patient was finally rescued successfully and discharged on post injury day 29. This case suggests that early hemodialysis combined with hemoperfusion and continuous renal replacement therapy are effective methods for treating severe phenol burn complicated with acute poisoning.


Subject(s)
Burns, Chemical , Burns , Phenols/poisoning , Hemoperfusion , Humans , Male , Middle Aged , Phenol , Renal Dialysis
2.
4.
Zhonghua Yan Ke Za Zhi ; 55(8): 589-594, 2019 Aug 11.
Article in Chinese | MEDLINE | ID: mdl-31422637

ABSTRACT

Objective: To assess the prevalence and influence factors of cataract at different altitudes in Gansu Province. Methods: A total of 7 560 permanent residents aged 50 years and over in seven regions of Gansu Province (altitude, 900 meters to 3 500 meters) were selected as subjects, including 2 402 males and 5 158 females, with an average age of 62.04 years. The cluster random sampling method was used to conduct the survey at village or township health service centers. The investigation procedure included questionnaire survey, pre-investigation, visual acuity examination, intraocular pressure measurement, slit lamp microscopy and fundus examination. The diagnostic criterion for cataract was typical opacity of the lens or no other eye diseases that led to visual impairment but with visual acuity less than 0.7. The prevalence of cataract was calculated according to factors such as altitude, age and sex. The Chi-square test and two-element unconditional logistic regression were used for statistical analyses. Results: A total of 7 560 people were surveyed. The prevalence rate of cataract was 39.7%, and the age-standardized prevalence was 37.7%. The prevalence of cataract increased with age (χ(2)=2 107.19, P<0.01). It was 14.1% in the group of 50-59 years, 42.9% in the group of 60-69 years and 79.2% in the group of over 70 years. The prevalence of cataract also increased with altitude (χ(2)=33.66, P<0.01). It was 36.9% in the group of altitude less than 1 000 meters, 39.0% in the group of altitude between 1 000 meters and 1 999 meters, 45.9% in the group of altitude between 2 000 meters and 2 999 meters, and 51.5% in the group of altitude more than 3 000 meters. With age stratification, the prevalence of cataract at high altitude was higher than that at low altitude (χ(2)=26.74, 16.06, P<0.01). Multivariate regression analysis showed that the risk of cataract was higher in subjects at altitude of 2 000-2 999 meters than those below 1 000 meters (OR=1.42, 95%CI 1.11-1.82), and even higher in those at altitude of 3 000 meters (OR=1.76, 95%CI 1.01-3.06). Conclusions: High altitude and old age are important risk factors for cataract, and high altitude is an independent risk factor for cataract. It is necessary for local health institutions to take measures to reduce the prevalence of blindness and low vision, especially the blindness caused by cataract. (Chin J Ophthalmol, 2019, 55:589-594).


Subject(s)
Altitude , Cataract , Vision, Low , Aged , Blindness , Cataract/epidemiology , China/epidemiology , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Prevalence
5.
Rhinology ; 57(4): 268-272, 2019 Aug 01.
Article in English | MEDLINE | ID: mdl-30887967

ABSTRACT

BACKGROUND: Azelastine hydrochloride (azelastine) nasal spray is a histamine receptor-1 (H1) antagonist often used in treating allergic rhinitis to relieve its symptoms. However, the effects of azelastine to influence decongestion on human nasal mucosa in patients with allergic rhinitis are not yet fully explored and merit further exploration. The effects of azelastine on the vasocontractile responses generated by smooth muscles in the vascular structures of human nasal mucosa were investigated directly in vitro. METHODS: We examined the effectiveness of azelastine on isolated human nasal mucosa by testing: 1) the effect on mucosa resting tension; 2) the effect on mucosal contraction caused by 10-6 M methoxamine as a sympathetic mimetic; 3) the effect of the drugs on electrically induced mucosal contractions. RESULTS: The results indicated that addition of methoxamine to the incubation medium caused the nasal mucosa to contract in a dose-dependent manner. Addition of azelastine at doses of 10â€"6 M or above elicited a significant dilation response to 10â€"6 M methoxamine-induced mucosal contraction. Azelastine could inhibit electrical field stimulation-induced spike mucosal contraction. Moreover, increase in concentration of azelastine had minimal effect on basal tension of nasal mucosa. CONCLUSIONS: The technique in our study is simple and reproducible. Azelastine could inhibit both EFS and methoxamine-induced nasal mucosal contractions in vitro. This study highlights that although azelastine nasal spray is often used in treating allergic rhinitis to improve symptoms, nasal obstruction may be not relieved immediately due to the anti-sympathetic effect of azelastine.


Subject(s)
Anti-Inflammatory Agents, Non-Steroidal , Nasal Mucosa , Phthalazines , Rhinitis, Allergic , Rhinitis , Administration, Intranasal , Anti-Inflammatory Agents, Non-Steroidal/pharmacology , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Double-Blind Method , Humans , Nasal Mucosa/drug effects , Nasal Sprays , Phthalazines/pharmacology , Phthalazines/therapeutic use , Rhinitis/drug therapy
6.
Insect Mol Biol ; 27(4): 512-521, 2018 08.
Article in English | MEDLINE | ID: mdl-29693770

ABSTRACT

Apis mellifera plays crucial roles in maintaining the balance of global ecosystems and stability of agricultural systems by helping pollination of flowering plants, including many crops. In recent years, this balance has been disrupted greatly by some pesticides, which results in great losses of honeybees worldwide. Previous studies have found that pesticide-caused memory loss might be one of the major reasons for colony loss. Histone deacetylase inhibitors (HDACis) are chemical compounds that inhibit the activity of histone deacetylases and are known to cause hyperacetylation of histone cores and influence gene expression. In our study, the HDACi sodium butyrate was applied to honeybees as a dietary supplement. The effect of sodium butyrate on the expression profiles of memory-related genes was analysed by quantitative reverse transcription PCR. The results revealed that this HDACi had up-regulation effects on most of the memory-related genes in bees, even in bees treated with imidacloprid. In addition, using the proboscis extension reflex to evaluate olfactory learning in bees, we found that this HDACi boosted the memory formation of bees after impairment owing to imidacloprid exposure. This study investigated the association between gene expression and memory formation from an epigenetic perspective. Additionally, we further demonstrate the possibility of enhancing bee learning using HDACis and provide initial data for future research.


Subject(s)
Bees/physiology , Butyric Acid/pharmacology , Gene Expression , Histamine Antagonists/pharmacology , Histone Deacetylase Inhibitors/metabolism , Insect Proteins/genetics , Memory , Acetylation , Animals , Bees/enzymology , Bees/genetics , Insect Proteins/metabolism , Insecticides/toxicity , Learning , Neonicotinoids/toxicity , Nitro Compounds/toxicity
7.
Clin Otolaryngol ; 43(4): 1031-1035, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29495103

ABSTRACT

OBJECTIVES: Sumatriptan (Imigran) is a potent and highly selective 5-HT1 receptor agonist often used in treating acute migraine. Intranasal sumatriptan is well absorbed and is generally effective in relieving headache. However, the effects of Imigran on human nasal mucosa have rarely been well explored, to verify the effect of Imigran, which act on human nasal mucosa directly in vitro. DESIGN AND PARTICIPANTS: We examined the effectiveness of Imigran on human nasal mucosa by testing: (i) effect on human nasal mucosa resting tension; (ii) effect on contraction caused by 10-6  mol/L methoxamine as a sympathetic mimetic; and (iii) effect of the drugs on electrically induced on human nasal mucosa contractions. RESULTS: The results indicated that addition of methoxamine to the incubation medium caused the nasal mucosa to contract in a dose-dependent manner. Addition of Imigran at doses of 10-4  mol/L elicited a significant relaxation response to 10-6  mol/L methoxamine-induced contraction. Imigran could not inhibit electrical field stimulation-induced spike contraction. It also had a minimal effect on the basal tension of nasal mucosa as the concentration increased. CONCLUSIONS: The study indicated that high concentrations of Imigran had a significant spasmolytic effect by antagonising α-adreoceptors and nasal obstruction could not be released in the patient combined with acute migraine and stuffy nose by concomitant α-adrenergic agonist nasal spray plus Imigran nasal spray.

8.
Cell Death Differ ; 23(7): 1175-84, 2016 07.
Article in English | MEDLINE | ID: mdl-26823144

ABSTRACT

The transcriptional repressor B lymphocyte-induced maturation protein-1 (Blimp-1) has crucial roles in the control of plasma cell differentiation and in maintaining survival of plasma cells. However, how Blimp-1 ensures the survival of plasma cell malignancy, multiple myeloma (MM), has remained elusive. Here we identified Aiolos, an anti-apoptotic transcription factor of MM cells, as a Blimp-1-interacting protein by mass spectrometry. ChIP coupled with DNA microarray was used to profile the global binding of Aiolos and Blimp-1 to endogenous targets in MM cells, which revealed their co-binding to a large number of genes, including apoptosis-related genes. Accordingly, Blimp-1 and Aiolos regulate similar transcriptomes in MM cells. Analysis of the binding motifs for Blimp-1 and Aiolos uncovered a partial motif that was similar across sites for both proteins. Aiolos promotes the binding of Blimp-1 to target genes and thereby enhances Blimp-1-dependent transcriptional repression. Furthermore, treatment with an anti-MM agent, lenalidomide, caused ubiquitination and proteasomal degradation of Blimp-1, leading to the de-repression of a new Blimp-1 direct target, CULLIN 4A (CUL4A), and reduced Aiolos levels. Accordingly, lenalidomide-induced cell death was partially rescued by reintroduction of Blimp-1 or knockdown of CUL4A. Thus, we demonstrated the functional impacts and underlying mechanisms of the interaction between Aiolos and Blimp-1 in maintaining MM cell survival. We also showed that interruption of Blimp-1/Aiolos regulatory pathways contributes to lenalidomide-mediated anti-MM activity.


Subject(s)
Apoptosis , Ikaros Transcription Factor/metabolism , Positive Regulatory Domain I-Binding Factor 1/metabolism , Angiogenesis Inhibitors/pharmacology , Antibodies/immunology , Apoptosis/drug effects , Base Sequence , Binding Sites , Cell Line, Tumor , Cullin Proteins/antagonists & inhibitors , Cullin Proteins/genetics , Cullin Proteins/metabolism , Down-Regulation/drug effects , HEK293 Cells , Humans , Ikaros Transcription Factor/genetics , Ikaros Transcription Factor/immunology , Lenalidomide , Multiple Myeloma/metabolism , Multiple Myeloma/pathology , Oligonucleotide Array Sequence Analysis , Positive Regulatory Domain I-Binding Factor 1/antagonists & inhibitors , Positive Regulatory Domain I-Binding Factor 1/genetics , Promoter Regions, Genetic , Protein Binding , RNA Interference , RNA, Small Interfering/metabolism , Thalidomide/analogs & derivatives , Thalidomide/pharmacology , Ubiquitination/drug effects
9.
Clin Pharmacol Ther ; 98(4): 442-9, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26082272

ABSTRACT

Few studies evaluated the effects of pentoxifylline on hard endpoints in patients with predialysis stage 5 chronic kidney disease (CKD). Thus, we tried to explore the effects of pentoxifylline and its interaction with renin-angiotensin-aldosterone system (RAAS) blockade on the development of endstage renal disease (ESRD) and mortality. This nationwide cohort study retrospectively included patients who had a serum creatinine level of >6 mg/dL and received erythropoiesis-stimulating agents (ESAs) between 2000 and 2010. We analyzed 7,366 pentoxifylline users and 7,366 propensity score-matched nonusers. Using Cox proportional hazard models, pentoxifylline reduced the risks of ESRD and the composite renal outcome but not that of mortality. In terms of the risks of developing ESRD, pentoxifylline alone exerted a comparable beneficial effect to combined therapy with an RAAS inhibitor and greater renoprotection than RAAS inhibitor monotherapy. This study suggests pentoxifylline is efficacious in slowing progression to ESRD in patients with predialysis stage 5 CKD.


Subject(s)
Angiotensin II Type 1 Receptor Blockers/therapeutic use , Angiotensin-Converting Enzyme Inhibitors/therapeutic use , Kidney Failure, Chronic/prevention & control , Pentoxifylline/therapeutic use , Renal Dialysis , Renal Insufficiency, Chronic/drug therapy , Renin-Angiotensin System/drug effects , Urological Agents/therapeutic use , Aged , Angiotensin II Type 1 Receptor Blockers/adverse effects , Angiotensin-Converting Enzyme Inhibitors/adverse effects , Biomarkers/blood , Chi-Square Distribution , Creatinine/blood , Disease Progression , Drug Therapy, Combination , Female , Humans , Kidney Failure, Chronic/diagnosis , Kidney Failure, Chronic/mortality , Logistic Models , Male , Middle Aged , Multivariate Analysis , Pentoxifylline/adverse effects , Propensity Score , Proportional Hazards Models , Renal Insufficiency, Chronic/diagnosis , Renal Insufficiency, Chronic/mortality , Renal Insufficiency, Chronic/physiopathology , Retrospective Studies , Risk Factors , Time Factors , Treatment Outcome , Urological Agents/adverse effects
10.
Eur J Gynaecol Oncol ; 35(3): 318-21, 2014.
Article in English | MEDLINE | ID: mdl-24984551

ABSTRACT

The patient presented in this case report was a 45-year-old female, with a Stage IIIA ovarian angiosarcoma combined with mature teratoma, that underwent debulking surgery and achieved complete remission for 11 months after six cycles of MAID chemotherapy (mesna, adriamycin/doxorubicin, ifosfamide, and dacarbazine). Thereafter, she had tumor recurrence with peritoneal seeding and massive pleural effusion; hence she received chemotherapy again. Although she had been undergoing a series of chemotherapies, the tumor continued to progress. Hence, she refused further chemotherapy since September 2012. Unfortunately, she passed away in January 2013 due to severe dyspnea with wide spread tumor progression. She had the longest survival period (31 months) and complete remission period than the other advanced primary ovarian angiosarcoma cases ever reported in the literature.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Hemangiosarcoma/drug therapy , Ovarian Neoplasms/drug therapy , Dacarbazine/therapeutic use , Doxorubicin/therapeutic use , Female , Humans , Ifosfamide/therapeutic use , Mesna/therapeutic use , Middle Aged
11.
Eye (Lond) ; 28(6): 705-14, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24625378

ABSTRACT

AIM: This study aimed to ascertain the prevalence of and the risk factors associated with early and late age-related macular degeneration (AMD) among Chinese individuals aged ≥65 years residing in Puzih, Taiwan. METHODS: This population-based cross-sectional study graded digital colour photographs of the ocular fundus of 673 individuals using the Wisconsin Age-Related Maculopathy Grading System. We compared the characteristics of individuals with early and late AMD using χ(2)-analyses and described risk factors for early and late AMD using odds ratios and 95% confidence intervals. RESULTS: Individuals with late AMD were significantly older and more likely to have hypertension. Further, their sunlight exposure time was longer than that of those with early AMD, only drusen, or no AMD lesions (P<0.01). A history of hyperlipidaemia for >10 years was a significant risk factor for early AMD, while old age, hypertension for >10 years, and exposure to sunlight for >8 h per day were associated with late AMD. CONCLUSIONS: The prevalence rate of early AMD in the present study was 15.0%, which is similar to that reported for Caucasians and Japanese included in the European Eye Study and the Hisayama Study, respectively. The late AMD prevalence rate of 7.3% found among our study participants was comparable to that reported by the Greenland Inuit Eye Study and Reykjavik Study, but considerably lower than that reported for Caucasians, indicating that late AMD might be less prevalent among Asians than Caucasians.


Subject(s)
Asian People/ethnology , Macular Degeneration/ethnology , Age Distribution , Aged , Aged, 80 and over , Cross-Sectional Studies , Female , Health Surveys , Humans , Macular Degeneration/classification , Male , Odds Ratio , Photography , Prevalence , Risk Factors , Sex Distribution , Taiwan/epidemiology
12.
Osteoporos Int ; 24(2): 511-21, 2013 Feb.
Article in English | MEDLINE | ID: mdl-22588182

ABSTRACT

SUMMARY: Bisphosphonates have been used for the treatment of postmenopausal osteoporosis since the early 1990s and studies show that compliant patients experience a lower fracture rate. This cohort study showed that the compliance of Taiwanese patients was poor and the refracture risk was related to compliance with bisphosphonate therapy. INTRODUCTION: Bisphosphonates are potent inhibitors of osteoclast activity, and reduce bone turnover by inhibiting bone resorption. According to Taiwanese reimbursement guidelines, patients with osteoporosis-related fractures are eligible for bisphosphonate treatment. This study aimed to elucidate the relationship of refracture risk with compliance/persistence with bisphosphonate therapy in Taiwan. METHODS: This was a retrospective, administrative, database analysis measuring the adherence status and impact of poor adherence to bisphosphonate therapy in Taiwan. Study data derived from the National Health Insurance Research Database (NHIRD) were used to assemble a cohort of all osteoporosis patients who initiated bisphosphonate treatment between January 1, 2004, and December 31, 2005. Patients were followed until death, end of registration in NHIRD, or end of study period (December 31, 2006), whichever occurred first. Compliance was calculated as medication possession ratio (MPR; sum of days of supply of osteoporosis medications divided by follow-up duration). RESULTS: The refracture rates for osteoporosis patients were 5.15 %, 7.36 %, and 8.49 % in the first, second, and third year, respectively, and were significantly lower for patients with >80 % compliance than with <80 % compliance (p < 0.05). Nearly 50 % patients were noncompliant (MPR < 80 %) at 3 months, and only around 30 % patients were adherent at 1 year. Refracture risk increased with MPR < 80 %, age, and co-morbidities like diabetes mellitus or dementia. Patients with concomitant statin medication had significantly lower refracture risk. CONCLUSIONS: The compliance of Taiwanese patients with osteoporosis medication is poor, and refracture risk is related to compliance with bisphosphonate therapy.


Subject(s)
Bone Density Conservation Agents/therapeutic use , Diphosphonates/therapeutic use , Medication Adherence/statistics & numerical data , Osteoporotic Fractures/prevention & control , Age Distribution , Aged , Aged, 80 and over , Comorbidity , Drug Administration Schedule , Female , Humans , Male , Middle Aged , Osteoporosis/drug therapy , Osteoporosis/epidemiology , Osteoporotic Fractures/epidemiology , Retrospective Studies , Risk Assessment/methods , Secondary Prevention , Taiwan/epidemiology
13.
Exp Oncol ; 34(3): 298-305, 2012 Oct.
Article in English | MEDLINE | ID: mdl-23070015

ABSTRACT

Accelerated cellular senescence (ACS) is an emerging concept that implicates sustained, telomere-independent cell cycle arrest of neoplastic cells in response to chemotherapeutic agents, ionizing radiation, oxidative stress, or the presence of selective oncogenic stimuli. Recent evidence suggests that a subset of tumor cells induced in a state of reversible ACS can escape cell cycle arrest and resume proliferation accounting for cancer progression. The purpose of this review is to describe our current understanding of ACS including signaling pathways of senescence escape, role of senescence biomarkers, and rationale for senescence-based therapy. This article is part of a Special Issue entitled "Apoptosis: Four Decades Later".


Subject(s)
Apoptosis/genetics , Cell Transformation, Neoplastic , Cellular Senescence , Neoplasms , Cell Cycle Checkpoints/genetics , Cell Proliferation , Cellular Senescence/genetics , Cellular Senescence/physiology , Humans , Neoplasms/genetics , Neoplasms/physiopathology , Signal Transduction , Telomere/genetics , Telomere/metabolism
14.
Int J Immunopathol Pharmacol ; 25(1): 219-30, 2012.
Article in English | MEDLINE | ID: mdl-22507334

ABSTRACT

Atorvastatin is an HMG-CoA reductase inhibitor used to treat hypercholesterolemic conditions associated with hypertension. This study aims to investigate the anti-inflammatory and neuroprotective effects of atorvastatin on peripheral neuropathic pain. Peripheral neuropathic pain was induced by chronic constriction injury (CCI) in Sprague-Dawley rats. Rats were divided into 3 groups including sham-operated, CCI, and atorvastatin-treated. Atorvastatin (10 mg/kg) or phosphate-buffered saline was orally administered for 2 weeks. All animals were assessed by neurobehavioral tests before surgery and at days 3, 7, 14 after surgery. Inflammatory and neuroprotective factors were evaluated by Western blot analysis. eNOS, COX2 and iNOS in the sciatic nerve were also studied using immunohistochemistry. Atorvastatin attenuated CCI-induced nociceptive sensitization and thermal hyperalgesia in a time-dependent manner. Atorvastatin improved CCI-induced neurobehavioral/inflammatory activity by inhibition of TGF-beta, pIkB/IkB, NFkB, COX2, iNOS, EP1 and EP4 in the sciatic nerve. Atorvastatin was also found to increase neuroprotection factors pAkt/Akt, eNOS and VEGF. Taken together, these data indicate that atorvastatin could protect the sciatic nerve against CCI-induced neuroinflammation and nociception.


Subject(s)
Anti-Inflammatory Agents/pharmacology , Heptanoic Acids/pharmacology , Hydroxymethylglutaryl-CoA Reductase Inhibitors/pharmacology , Neuralgia/drug therapy , Neuroprotective Agents/pharmacology , Pyrroles/pharmacology , Animals , Atorvastatin , Disease Models, Animal , Hyperalgesia/drug therapy , Immunohistochemistry , Male , NF-kappa B/analysis , Nitric Oxide Synthase Type II/analysis , Nitric Oxide Synthase Type III/analysis , Rats , Rats, Sprague-Dawley , Vascular Endothelial Growth Factor A/analysis
15.
Indoor Air ; 22(3): 186-99, 2012 Jun.
Article in English | MEDLINE | ID: mdl-21995786

ABSTRACT

UNLABELLED: The associated risk of phthalate exposure, both parent compounds in the home and their metabolites in urine, to childhood allergic and respiratory morbidity, after adjusting for exposures of indoor pollutants, especially bioaerosols, was comprehensively assessed. Levels of five phthalates in settled dust from the homes of 101 children (3-9 years old) were measured, along with their corresponding urinary metabolites. Other environmental risk factors, including indoor CO2, PM2.5, formaldehyde, 1,3-ß-D-glucan, endotoxin, allergen and fungal levels, were concomitantly examined. Subject's health status was verified by pediatricians, and parents recorded observed daily symptoms of their children for the week that the home investigation visit took place. Significantly increased level of benzylbutyl phthalate, in settled dust, was associated with test case subjects (allergic or asthmatic children). Higher levels of dibutyl phthalate and its metabolites, mono-n-butyl phthalate, and mono-2-ethylhexyl phthalate were found to be the potential risk factors for the health outcomes of interest. Similarly, indoor fungal exposure remained a significant risk factor, especially for reported respiratory symptoms. The relative contribution from exposure to phthalates and indoor biocontaminants in childhood allergic and respiratory morbidity is, for the first time, quantitatively assessed and characterized. PRACTICAL IMPLICATIONS: For asthmatic and allergic children living in subtropical and highly developed environments like homes in Taiwan, controlling environmental exposure of phthalates may be viewed as equally important as avoiding indoor microbial burdens, for the management of allergy-related diseases. It is also recognized that multidisciplinary efforts will be critical in realizing the true underlying mechanisms associated with these observations.


Subject(s)
Air Pollution, Indoor/statistics & numerical data , Asthma/epidemiology , Dust/analysis , Hypersensitivity/epidemiology , Phthalic Acids/analysis , Air Pollution, Indoor/adverse effects , Asthma/etiology , Asthma/metabolism , Asthma/urine , Child , Child, Preschool , Environmental Exposure , Humans , Hypersensitivity/etiology , Hypersensitivity/metabolism , Hypersensitivity/urine , Immunoglobulin E/blood , Logistic Models , Multivariate Analysis , Phthalic Acids/urine , Surveys and Questionnaires , Taiwan/epidemiology
16.
Genet Couns ; 22(3): 255-61, 2011.
Article in English | MEDLINE | ID: mdl-22029166

ABSTRACT

We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 4 , Eye Diseases/genetics , Tooth Abnormalities/genetics , Adolescent , Amphiregulin , Betacellulin , Bone Morphogenetic Protein 2/genetics , Dental Enamel Proteins/genetics , Dwarfism/genetics , EGF Family of Proteins , Extracellular Matrix Proteins , Eye Diseases/congenital , Female , Glycoproteins/genetics , Haploinsufficiency , Humans , Intellectual Disability/genetics , Intercellular Signaling Peptides and Proteins/genetics , Proteins/genetics , Puberty, Delayed/genetics , Syndrome
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