scholarly journals Dandy–Walker Syndrome: Management at Acharya Vinoba Bhave Rural Hospital, Wardha, India

2017 ◽  
Vol 03 (01) ◽  
pp. 020-024
Author(s):  
Harmandeep Jabbal ◽  
Dhirendra Wagh
Keyword(s):  
Motor Development ◽  
Marked Reduction ◽  
Intellectual Development ◽  
Treatment Protocol ◽  
Rural Hospital ◽  
Vp Shunt ◽  
Appropriate Treatment ◽  
Intellectual Outcome ◽  
Visual Problems

AbstractWe discuss 10 cases of Dandy–Walker syndrome that presented between May 2014 and June 2015 at the Department of Neurosurgery and General Surgery in Acharya Vinoba Bhave Rural Hospital, Sawangi (M), Wardha, India. As the definitive surgical treatment protocol is not standardized, we discuss the different techniques used. Combined cystoperitoneal (CP) and ventriculoperitoneal (VP) shunt was done in three cases, two were treated with CP shunt alone, and the remaining five cases were managed with VP shunt.Follow-up showed marked reduction in the head circumference and better motor development, along with alleviation of other neurological symptoms.Seizures, hearing or visual problems, various central nervous system abnormalities, and systemic abnormalities were associated with poor intellectual development and could be used to predict intellectual outcome.Prognosis varies due to several factors, but an early diagnosis and appropriate treatment have a good prognostic value.

scholarly journals GCT-13. THE TREATMENT OUTCOMES OF INTRACRANIAL GERM CELL TUMORS WITH KSPNO PROTOCOL: SINGLE CENTER RETROSPECTIVE ANALYSIS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii330-iii330
Author(s):  
Kyeong-O Go ◽  
Soyoung Ji ◽  
Kihwan Hwang ◽  
Jung Ho Han ◽  
Hyoung Soo Choi ◽  
...  
Keyword(s):  
Germ Cell ◽  
Recurrence Rate ◽  
Germ Cell Tumors ◽  
Treatment Protocol ◽  
Progression Free Survival ◽  
Pathological Subtype ◽  
Appropriate Treatment ◽  
Intracranial Germ Cell Tumors ◽  
Grade 3

Abstract Dho et al. (BTRT, 2017) reported that 1.1% (127/11,827) of primary brain tumors are intracranial germ cell tumors (iGCT) in Korea. We analyzed the epidemiology and treatment results of germ cell tumors in our institution. From 2004 to 2019, among 6494 patients with intracranial neoplasms the 61 (0.9%) patients with iGCTs were enrolled: histologically diagnosed in 50 patients and clinically in 11 respectively. Pediatric patients underwent treatment according to the KSPNO protocol, and adult patients were treated with bleomycin, etoposide, and cisplatin regimens. The median age was 20 years (range: 1–42) and the follow-up period was 7.7 months (range: 10.0–203.4 months), respectively. The tumors arise most frequently in the pineal area (n=30, 49.2%). There were no significant differences in outcomes between protocols, but in KSPNO protocol group showed lower tumor recurrence rate (11.5% vs. 20%, p=0.494) and mortality (0% vs. 5.2%, p=0.503). According to the pathological subtype, the outcomes showed statistically significant differences between germinoma and non-germinomatous germ cell tumor (NGGCT) groups. The 10-year progression-free survival was 93.2% and 67.1% in the germinoma and the NGGCT group, respectively (p=0.009). The NGGCT pathological type (p=0.021) was a significant recurrence associated factor in multivariate analysis. Significant adverse events (CTCAE version 5.0 grade≥3) were showed in 14 patients (7 patients in both KSPNO and other treatment protocol groups). Pure germinoma has a higher survival rate and a lower recurrence rate than NGGCT. And KSPNO protocol might be safe and effective. For appropriate treatment for iGTCs, a multidisciplinary approach might be needed.

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

2019 ◽  
Vol 24 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Bianca K. den Ottelander ◽  
Robbin de Goederen ◽  
Marie-Lise C. van Veelen ◽  
Stephanie D. C. van de Beeten ◽  
Maarten H. Lequin ◽  
...  
Keyword(s):  
Treatment Protocol ◽  
First Year ◽  
Ventricular Size ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Skull Growth ◽  
Muenke Syndrome ◽  
First Year Of Life

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

2018 ◽  
Vol 16 (05) ◽  
pp. 362-368 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Stefano Catanzaro ◽  
Selene Mantegna ◽  
Francesco Lacarrubba ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Number Of Patients ◽  
Wide Range ◽  
Visual Problems ◽  
Neurodevelopmental Abnormalities ◽  
Clinical Triad ◽  
High Degree ◽  
Motor Handicap

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

scholarly journals 63 Chronic Femoral Osteomyelitis Case Series: Outcomes and Economic Impact at A United Kingdom Based Tertiary Centre

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
E Lau ◽  
Z Arshad ◽  
A Aslam ◽  
A Thahir ◽  
M Krkovic
Keyword(s):  
Economic Impact ◽  
Treatment Protocol ◽  
Case Series ◽  
Consecutive Series ◽  
Financial Loss ◽  
Patient Demographics ◽  
Tertiary Centre ◽  
The Mean ◽  
Eq Vas

Abstract Introduction Osteomyelitis refers to an inflammatory process affecting bone and bone marrow. This study reviews chronic femoral osteomyelitis treatment and outcomes, including economic impact. Method We retrospectively collected data from a consecutive series of 14 chronic femoral osteomyelitis patients treated between January 2013 and January 2020. Data collected include patient demographics, comorbidities, pathogens, complications, treatment protocol and costs. Functional outcome was assessed using EuroQOL five-dimensional interview administration questionnaire (EQ-5D-5L™) and EuroQOL Visual Analogue Scale (EQ-VAS™). Results Of these, 92.9% had one or more osteomyelitis risk factor, including smoking and diabetes. Samples from 78.6% grew at least one pathogen. Only 42.9% achieved remission after initial treatment, but 85.7% were in remission at final follow-up, with no signs of recurrence throughout the follow-up period (mean: 21.4 months). The average treatment cost was £39,249.50 with a net mean loss of £19,080.10 when funding was considered. The mean-derived EQ-5D score was 0.360 and the mean EQ-VAS score was 61.7, lower than their values for United Kingdom’s general population, p = 0.0018 and p = 0.013 respectively. Conclusions Chronic femoral osteomyelitis treatment is difficult, resulting in significant economic burden. With previous studies showing cheaper osteomyelitis treatment at specialist centres, our net financial loss incurred suggests the need for management at specialised centres.

scholarly journals Pediatric endoscopic pilonidal sinus treatment (PEPSiT): what we learned after a 3-year experience in the pediatric population

2021 ◽  
Author(s):  
Ciro Esposito ◽  
Ernesto Montaruli ◽  
Giuseppe Autorino ◽  
Mario Mendoza-Sagaon ◽  
Maria Escolino
Keyword(s):  
Patient Satisfaction ◽  
Laser Therapy ◽  
Pilonidal Sinus ◽  
Pediatric Population ◽  
Treatment Protocol ◽  
Pilonidal Sinus Disease ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Clavien Grade

AbstractThis paper aimed to report a multi-institutional 3-year experience with pediatric endoscopic pilonidal sinus treatment (PEPSiT) and describe tips and tricks of the technique. We retrospectively reviewed all patients < 18 years, with primary or recurrent pilonidal sinus disease (PSD), undergoing PEPSiT in the period 2017–2020. All patients received pre-operative laser therapy, PEPSiT and post-operative dressing and laser therapy. Success rate, healing rate/time, post-operative management, short- and long-term outcome and patient satisfaction were assessed. A total of 152 patients (98 boys) were included. Median patient’s age was 17.1 years. Fifteen/152 patients (9.8%) presented a recurrent PSD. All patients resumed full daily activities 1 day after surgery. The post-operative course was painless in 100% of patients (median VAS pain score < 2/10). Patient satisfaction was excellent (median score 4.8). The median follow-up was 12.8 months (range 1–36). Complete healing in 8 weeks was achieved in 145/152 (95.4%) and the median healing time was 24.6 days (range 16–31). We reported post-operatively immediate Clavien grade 2 complications (3 oedema, 2 burns) in 5/152 (3.3%) and delayed Clavien grade 2 complications (3 granulomas, 8 wound infections) in 11/152 (7.2%). Disease recurrence occurred in 7/152 (4.6%), who were re-operated using PEPSiT. PEPSiT should be considered the standard of care for surgical treatment of PSD in children and teenagers. PEPSiT is technically easy, with short and painless post-operative course and low recurrence rate (4.6%). Standardized treatment protocol, correct patient enrollment and information, and intensive follow-up are key points for the success of the procedure.

scholarly journals Maternal and Neonatal Outcome after the Use of G-CSF for Cancer Treatment during Pregnancy

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1214
Author(s):  
Claudia Berends ◽  
Charlotte Maggen ◽  
Christianne A. R. Lok ◽  
Mathilde van Gerwen ◽  
Ingrid A. Boere ◽  
...  
Keyword(s):  
Motor Development ◽  
Neonatal Intensive Care ◽  
Neonatal Outcome ◽  
Intrauterine Death ◽  
Delayed Effects ◽  
Development Delay ◽  
Dose Dense ◽  
Neonatal Neutropenia ◽  
Stimulating Factor

Data on the use of Granulocyte colony-stimulating factor (G-CSF) in pregnant cancer patients are scarce. The International Network of Cancer, Infertility and Pregnancy (INCIP) reviewed data of pregnant patients treated with chemotherapy and G-CSF, and their offspring. Among 2083 registered patients, 42 pregnant patients received G-CSF for the following indications: recent chemotherapy induced febrile neutropenia (5; 12%), dose dense chemotherapy (28, 67%), poly chemotherapy (7, 17%), or prevention of neutropenia at delivery (2; 5%). Among 24 women receiving dose dense chemotherapy, three (13%) patients recovered from asymptomatic neutropenia within 5 days. One patient developed pancytopenia following polychemotherapy after which the pregnancy was complicated by chorioamnionitis and intrauterine death. Nineteen singleton livebirths (49%) were born preterm. Sixteen neonates (41%) were admitted to the Neonatal Intensive care Unit (NICU). No neonatal neutropenia occurred. Two neonates had congenital malformations. Out of 21 children in follow-up, there were four children with a motor development delay and two premature infants had a delay in cognitive development. In conclusion, the rate of maternal and neonatal complications are similar to those described in (pregnant) women treated with chemotherapy. Due to small numbers and limited follow-up, rare or delayed effects among offspring exposed to G-CSF in utero cannot be ruled out yet.

Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype

2021 ◽  
Author(s):  
Elise Yazbeck ◽  
Hélène Maurey ◽  
Carole Leroy ◽  
Philippe Horellou ◽  
Silvia Napuri ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Brain Biopsy ◽  
Active Immunotherapy ◽  
Oligoclonal Bands ◽  
Second Child ◽  
Fluid Analysis ◽  
Appropriate Treatment ◽  
Neurological Prognosis ◽  
Mog Antibodies

AbstractAcquired demyelinating syndromes (ADS) are frequently associated with myelin oligodendrocytes glycoprotein (MOG) antibodies in children. Clinical phenotypes are heterogeneous and may delay the diagnosis, especially when they relapse and are atypical, mimicking diseases such as multiple sclerosis or neuromyelitis optica spectrum disorders . Here, we describe two children: one with a progressive cognitive and behavioral deterioration with seizures after only one relapse and the other with similar clinical impairments associated with multiple relapses. Brain magnetic resonance imaging revealed a subsequent progressive leukodystrophy-like lesion with diffuse bilateral white matter injuries in both patients. Cerebrospinal fluid analysis showed pleiocytosis, increased level of proteins with no oligoclonal bands. Metabolic and inflammatory blood markers were all negative. Brain biopsy was performed in the second child and nonspecific inflammatory lesions with no argument for histiocytosis or tumor were observed. Clinical and radiological stabilization were obtained after active immunotherapy. Retrospective analysis of anti-MOG antibodies in these two children was positive at the earlier stage of the disease and turned negative after treatment and during follow-up. Leukodystrophy-like ADS with anti-MOG-antibodies may display distinct progressive phenotype and have a severe neurological prognosis. Early diagnosis and appropriate treatment may improve outcome in these children.

scholarly journals Cervical Mesonephric Adenocarcinoma: A Case Report of a Rare Gynecological Tumor from Embryological Remains of the Female Genital Tract

2021 ◽  
Author(s):  
Catarina Reis-de-Carvalho ◽  
Carolina Vaz-de-Macedo ◽  
Santiago Ortiz ◽  
Anabela Colaço ◽  
Carlos Calhaz-Jorge
Keyword(s):  
Case Report ◽  
Genital Tract ◽  
Female Genital Tract ◽  
Treatment Protocol ◽  
Gynecology And Obstetrics ◽  
Mesonephric Adenocarcinoma ◽  
Gynecological Tumor ◽  
Cervical Adenocarcinomas ◽  
Female Genital

Abstract Introduction Malignant mesonephric tumors are uncommon in the female genital tract, and they are usually located where embryonic remnants of Wolffian ducts are detected, such as the uterine cervix. The information about these tumors, their treatment protocol, and prognosis are scarce. Case report A 60-year-old woman with postmenopausal vaginal bleeding was initially diagnosed with endometrial carcinoma. After suspicion co-testing, the patient underwent a loop electrosurgical excision of the cervix and was eventually diagnosed with mesonephric adenocarcinoma. She was subjected to a radical hysterectomy, which revealed International Federation of Gynecology and Obstetrics (FIGO) IB1 stage, and adjuvant radiotherapy. The follow-up showed no evidence of recurrence after 60 months. Conclusion We present the case of a woman with cervical mesonephric adenocarcinoma. When compared with the literature, this case had the longest clinical follow-up without evidence of recurrence, which reinforces the concept that these tumors are associated with a favorable prognosis if managed according to the guidelines defined for the treatment of patients with cervical adenocarcinomas. Though a rare entity, it should be kept in mind as a differential diagnosis for other cervical cancers.

scholarly journals Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xin Wang ◽  
Yanyun Wang ◽  
Dingyuan Ma ◽  
Zhilei Zhang ◽  
Yahong Li ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Phenylalanine Hydroxylase ◽  
Laboratory Data ◽  
Molecular Characteristics ◽  
Phenotype Correlation ◽  
Common Amino Acid ◽  
Appropriate Treatment ◽  
Clinical Presentations ◽  
Average Current

Abstract Background Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a difficult life. Early diagnosis of HPA before the development of symptoms is possible via neonatal screening, facilitating appropriate treatment and reducing mortality and disability rates. This study revealed the prevalence, mutational and phenotypic spectrum, and prognosis of HPA by neonatal screening from January 2001 to September 2020 in Nanjing, Jiangsu Province, China. Methods Through a retrospective analysis of the information available in the neonatal screening database, the clinical presentations, laboratory data, molecular characteristics and treatment follow-up data of HPA patients detected by neonatal screening were evaluated. Results We diagnosed 181 patients with HPA from 1 to 957 newborns, giving an incidence of 1:6873. Among these patients, 177 were identified as PAH deficient and four patients were BH4 deficient. The average current age of the patients was 6.38 years old. The most common mutations of PAH were c.728 C > A/ p.Arg243Gln (13.83 %), c.158G > A/ p.Arg53His (9.57 %), c.611 A > G/ p.Tyr204Cys (7.44 %), and c.721 C > T/ p.Arg241Cys (6.38 %). Conclusions This study revealed the prevalence, phenotype-genotype, and prognosis of HPA in China and contributes to the updating of PAHD data for China and worldwide. Our study not only expanded the spectrum of phenotypes and genotype but also provided a valuable tool for improved genetic counseling and management of future cases.

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