Total Retinal Detachment Caused by a KIF11 Mutation

2017 ◽  
Vol 27 (5) ◽  
pp. e147-e148 ◽  
Author(s):  
Jana Riedl ◽  
Urs Voβmerbäumer ◽  
Bernhard Stoffelns ◽  
Heike Elflein
Keyword(s):  
Case Report ◽  
Retinal Detachment ◽  
Congenital Cataract ◽  
University Hospital ◽  
External Appearance ◽  
Eye Examination ◽  
Bilateral Congenital Cataract ◽  
Present Case Study ◽  
Iris Atrophy

Purpose This is a case report of bilateral retinal detachment associated with KIF11 mutation. Methods In our university hospital, an 8-week-old patient presented with a potential bilateral congenital cataract, iris atrophy, and iridocorneal contact in the left eye. An examination revealed microcephaly and edema of the dorsa of the feet. The eye examination showed a clear lens in both eyes with a dislodged anterior chamber in the left eye with vessels drawn from the iris to the lens. A retrolental white bilateral mass with vessels was also observed. The MRI and the ultrasound revealed a potential peritoneal hyperplastic glass body. Bilateral retinal detachment was diagnosed during surgery. Results Due to the external appearance of the eyes (microcephaly and edema) and the bilateral retinal detachments, a test for KIF11 mutations was requested, and the results were positive. Conclusions There is a known association between KIF11 mutation and chorioretinopathy. The bilateral retinal detachment in the present case study has not been previously reported in the literature.

scholarly journals Giant hamartoma of the nasopharynx – case report

2019 ◽  
Author(s):  
Katarzyna Zasadzińska ◽  
Natalia Jarmołowicz-Aniołkowska ◽  
Andrzej Kukwa
Keyword(s):  
Case Report ◽  
Parotid Gland ◽  
Head And Neck ◽  
Developmental Disorder ◽  
Parapharyngeal Space ◽  
University Hospital ◽  
Surgical Approaches ◽  
Benign Lesions ◽  
Head And Neck Tumours

Introduction: Hamartoma is a developmental disorder. Aim: The aim of this study is to present a case of hamartoma of naso- and oropharynx and discuss the possible surgical approaches. Case study: A a 55-year-old male patient, who had undergone a tracheotomy due to increasing breathing difficulties was admitted to Head and Neck Diseases Clinic in the Clinical University Hospital in Olsztyn with the aim of proceeding further. Results and discussion: The parapharyngeal space is divided into the prestyloid and the retrostyloid compartment.Tumours of parapharyngeal space are responsible for 1% of head and neck tumours; 80% of these tumours are benign lesions, most often originating from the parotid gland (50% of all the cases). Conclusions: The treatment of choice for benign lesions like the hamartoma is a surgical resection. It is important to choose a suitable surgical approach considering morphotic parameters of a tumour, anatomic and topographic conditions.

scholarly journals A Rare Case Report on Thoracoomphalopagus

2016 ◽  
Vol 11 (1) ◽  
pp. 62-64
Author(s):  
Sabina Lamichhane ◽  
B Banerjee ◽  
S Subedi
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Rare Case ◽  
Pregnancy Termination ◽  
Conjoined Twins ◽  
Second Trimester ◽  
Mortality And Morbidity ◽  
Rare Case Report ◽  
Present Case Study

In the present case study we are reporting a case of thoracoomphalopagus conjoined twins. A 24 years old gravida two para 0+1 carrying thoracoomphalopagus conjoined twins was diagnosed by ultrasonography at early second trimester with single placenta attached posteriorly and low lying. The mortality and morbidity of conjoined twins are high so making the early diagnosis with ultrasonographic examination provides the parents a chance to elect for pregnancy termination.

scholarly journals Case Report: Rapidly Progressive Interstitial Lung Disease in A Pregnant Patient With Anti-Melanoma Differentiation-Associated Gene 5 Antibody-Positive Dermatomyositis

2021 ◽  
Vol 12 ◽  
Author(s):  
Cuihong Chen ◽  
Yulan Chen ◽  
Qin Huang ◽  
Qiu Hu ◽  
Xiaoping Hong
Keyword(s):  
Case Report ◽  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Pregnant Patient ◽  
Amyopathic Dermatomyositis ◽  
Clinically Amyopathic Dermatomyositis ◽  
First Case ◽  
Immunosuppressant Regimen ◽  
Present Case Study

Dermatomyositis occurs extremely rarely during pregnancy. A number of studies in the published literature have documented how the outcome of pregnancy is poor for both mother and fetus. The present case study reports on a patient who was diagnosed with clinically amyopathic dermatomyositis complicated by interstitial lung disease during pregnancy, and was successfully treated with a combined immunosuppressant regimen. To the best of the authors’ knowledge, this is the first case study detailing how a pregnant woman with clinically amyopathic dermatomyositis with positive anti-melanoma differentiation-associated gene 5 antibody achieved complete remission after early intervention of combined immunosuppressive therapy without residual pulmonary interstitial changes.

scholarly journals Medicolegal Evaluation of an Abandoned Dead Neonate: A Case Report

2021 ◽  
Vol 59 (235) ◽  
Author(s):  
Alok Atreya ◽  
Lokaratna Gyawali ◽  
Indira Devkota ◽  
Bishnu Pathak
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Autopsy Findings ◽  
Rural Nepal ◽  
Present Case Study

The killing of an illegitimate newborn immediately or within 24 hours of birth is neonaticide which differs from other forms of homicide in terms of diagnosis and motives. Neonaticide is a cognizable offense where mothers are usually the perpetrators. This case reports the autopsy findings of a smothered neonate at a secluded location in rural Nepal. The present case study also highlights the medicolegal implications in such cases.

scholarly journals AYURVEDIC MANAGEMENT OF EK-KUSHTA (PSORIASIS)-A CASE STUDY

2019 ◽  
Vol 7 (5) ◽  
pp. 238-244
Author(s):  
Dr. Bhupinder Singh Arora
Keyword(s):  
Case Report ◽  
Ayurvedic Medicine ◽  
Health Maintenance ◽  
The World ◽  
Present Case Study ◽  
Effective Result

Psoriasis is described in Ayurveda as ek-kushta, it is type of kshudrakushta. The number of people suffering from Psoriasis all over the world is increasing progressively. Ayurvedic medicine is oriented toward prevention, health maintenance and treatment of diseases. There is large number of drugs of herbal and mineral origin mentioned in Ayurvedic texts, regarding the treatment of ek-kushta. The present case study is successful Ayurvedic management of a case of ek-kushta (psoriasis). Here a case report of a 35 years-male having with the complaint of ubhay pad pradeshi twak aaraktavarniya twakavaivarnya, kandu, twakrukshata etc. since 2 months. He was treated with Ayurvedic herbs & some panchkarma procedure which give effective result with Ayurvedic Management.

scholarly journals The Effectiveness of 448 kHz Capacitive Resistive Monopoles Radio Frequency in Acute Ankle Sprain: A Case Report

2021 ◽  
Vol 7 (1) ◽  
pp. 1-4
Author(s):  
Stasinopoulos D ◽  
Keyword(s):  
Case Report ◽  
Visual Analogue Scale ◽  
Radio Frequency ◽  
Range Of Motion ◽  
Ankle Sprain ◽  
Analogue Scale ◽  
Present Report ◽  
Present Trial ◽  
Present Case Study

The aim of the present report was to find out the effect of 448 kHz Capacitive Resistive Monopolar Radiofrequency (CRMRF) in acute ankle sprain. A patient with right unilateral acute ankle sprain participated in the present case study. The patient followed a course of 448 kHz CRMRF twice per day for seven consecutive days. Evaluations included self-reported pain via a visual analogue scale, degree of ankle edema and ankle range of motion via goniometry carried out before the treatment and at the end of the treatment. There was a decline in pain and a rise in function in all evaluations. The results of the present trial suggest that a course of 448 kHz CRMRF as described in the present trial can produce significant improvements in terms of pain and disability in acute ankle sprain; however, larger studies are required confirming these results.

Bilateral Congenital Cataract Associated with Multiple Epiphyseal Dysplasia: A case Report

2012 ◽  
Vol 32 (1) ◽  
pp. 71-72
Author(s):  
S Adhikari ◽  
U Shrestha ◽  
P Nepal ◽  
JL Singh
Keyword(s):  
Case Report ◽  
Skeletal Dysplasia ◽  
Congenital Cataract ◽  
Multiple Epiphyseal Dysplasia ◽  
Systemic Diseases ◽  
Radiographic Findings ◽  
Skeletal Dysplasias ◽  
Rare Association ◽  
Epiphyseal Dysplasia ◽  
Bilateral Congenital Cataract

Cataract in children has varied etiology. It may be associated with systemic diseases including skeletal dysplasias. However cataract in Multiple Epiphyseal Dysplasia is a rare association. A child presented with bilateral dense posterior sub capsular cataract and multiple bony abnormalities. Clinical and radiographic findings suggested the disease to be Multiple Epiphyseal Dysplasia. The aim of presenting this case is to report a case of congenital cataract having a rare association with the Multipe Epiphyseal Dyspalsia. Key words: Congenital cataract; Multiple Epiphyseal Dysplasia; Skeletal dysplasia DOI: http://dx.doi.org/10.3126/jnps.v32i1.5434   J. Nepal Paediatr. Soc. Vol.32(1) 2012 71-72

scholarly journals Integrated Approach of Yoga Therapy towards Chronic Low Back Pain: A Case Report

2021 ◽  
Vol 2 (1) ◽  
pp. 15
Author(s):  
Reshma P. Jogdand ◽  
Shekhar Mukhiya Sunuwar ◽  
Amit Singh ◽  
R. Nagrathna
Keyword(s):  
Low Back Pain ◽  
Back Pain ◽  
Case Report ◽  
Integrated Approach ◽  
Low Back ◽  
Yoga Therapy ◽  
Lower Back ◽  
Present Case Study

This case report represents the patient of lower back pain (LBP) who visited Arogyadhama (SVYASA University, Bangalore). Patient was suffering from low back pain and multiple joint pain at the time of visit and 14 days Yoga intervention was provided to the patient for pain management, which helped the patient in relieving the pain and improving the muscular strength and quality of life significantly. The present case study is an attempt to provide IAYT (Integrated approach of Yoga therapy) practices in combination with naturopathy and physiotherapy for the maintenance of LBP profile and symptoms.

scholarly journals Integrated approach of yoga therapy towards morbid obesity: A case report

2020 ◽  
Vol 1 (1) ◽  
pp. 39
Author(s):  
Reshma P. Jogdand ◽  
Amit Singh ◽  
Raghuram Nagratna
Keyword(s):  
Morbid Obesity ◽  
Body Weight ◽  
Case Report ◽  
Integrated Approach ◽  
Yoga Practice ◽  
Yoga Therapy ◽  
Decrease Body Weight ◽  
Grade 3 ◽  
Present Case Study

The present case study is of evaluation of Grade 3 obesity who visited the Arogyadhama (SVYASA University, Bangalore). Conversations with the patient uncovered that the patient was being treated for obesity and patient portrayed his capacity to deal with the mental pressure related with overweight. He credited it to the inspirational demeanor created by his Yoga practice for 48 days. The patient was additionally ready to decrease body weight. The present narrative is an endeavor to give IAYT Practices, detoxification through Naturopathy.

scholarly journals Anachronism in Fonts and Relative Dating of Computer Printed Documents: A Case Report

2020 ◽  
Vol 2 (2) ◽  
pp. 203-208
Author(s):  
Loganathan Lingan
Keyword(s):  
Case Report ◽  
Digital Tool ◽  
Relative Age ◽  
Questioned Documents ◽  
Commercial Use ◽  
Relative Dating ◽  
Document Examination ◽  
Present Case Study

In the field of forensic document examination, identification of fonts and their dates of release may provide a lead as to the relative age of computer printouts. Hence, fonts in a printout can be used as a means of evaluation of an anachronism or chronological inconsistency. Therefore, an anachronism betrays the fabricated nature of the questioned documents. In the present case study, the traditional methodology of typescript matching coupled with an off-line digital tool were used in identifying pre-dated documents and disproving the genuineness of the documents in question. The procedure adopted for differentiation, identification and confirmation of font(s) and years of release of fonts for commercial use is discussed.Hence, in this case report it was safely concluded that the disputed agreement for sale could have been prepared on a later date than the purported date of execution i.e.1993 for the reason that the use of the “Comic Sans MS” font is an anachronism.

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