scholarly journals LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

2020 ◽  
Author(s):  
David Araujo-Vilar ◽  
Antia Fernández-Pombo ◽  
Gemma Rodríguez-Carnero ◽  
Miguel Angel Martínez-Olmos ◽  
Ana Cantón ◽  
...  

Abstract Background: Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of the HIV-associated lipodystrophy, they have a very low prevalence, which together with their large phenotypic heterogeneity makes their identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis or even to misdiagnosis. Our group has developed an algorithm that identifies the more than 40 rare lipodystrophy subtypes described to date. This algorithm has been implemented in a free mobile application, LipoDDx®. Our aim was to establish the effectiveness of LipoDDx®.40 clinical records of patients with a diagnosis of certainty of most lipodystrophy subtypes were analyzed, including subjects without lipodystrophy. The medical records, blinded for diagnosis, were evaluated by 13 physicians, 1 biochemist and 1 dentist. Each evaluator first gave his/her results based on his/her own criteria. Then, a second diagnosis was given using LipoDDx®. The results were analysed based on a score table according to the complexity of each case and the prevalence of the disease. Results: LipoDDx® provides a user-friendly environment, based on usually dichotomous questions or choice of clinical signs from drop-down menus. The final result provided by this app for a particular case can be a low/high probability of suffering a particular lipodystrophy subtype. Without using LipoDDx® the success rate was 17 ± 20%, while with LipoDDx® the success rate was 79 ± 20% (p <0.01). Conclusions: LipoDDx® is a free app that enables the identification of subtypes of rare lipodystrophies with around 80% effectiveness, which will be of help to doctors who are not experts in this field.

2019 ◽  
Author(s):  
David Araujo-Vilar ◽  
Antia Fernández-Pombo ◽  
Gemma Rodríguez-Carnero ◽  
Miguel Angel Martínez-Olmos ◽  
Ana Cantón ◽  
...  

Abstract Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of the HIV-associated lipodystrophy, they have a very low prevalence, which together with their large phenotypic heterogeneity makes their identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis or even to misdiagnosis. Objective: Our group has developed an algorithm that identifies the more than 40 rare lipodystrophy subtypes described to date. This algorithm has been implemented in a free mobile application, LipoDDx®. Our aim was to establish the effectiveness of LipoDDx®.Design and participants: 40 clinical records of patients with a diagnosis of certainty of most lipodystrophy subtypes were analyzed, including subjects without lipodystrophy. The medical records, blinded for diagnosis, were evaluated by 15 people. Each evaluator first gave his/her results based on his/her own criteria. Then, a second diagnosis was given using LipoDDx®. The results were analysed based on a score table according to the complexity of each case and the prevalence of the disease.Results: LipoDDx® provides a user-friendly environment, based on usually dichotomous questions or choice of clinical signs from drop-down menus. The final result provided by this app for a particular case can be a low/high probability of suffering a particular lipodystrophy subtype. Without using LipoDDx® the success rate was 17 ± 20%, while with LipoDDx® the success rate was 79 ± 20% (p <0.01).Conclusions: LipoDDx® is a free app that enables the identification of subtypes of rare lipodystrophies with around 80% effectiveness, which will be of help to doctors who are not experts in this field.


2020 ◽  
Author(s):  
David Araujo-Vilar ◽  
Antia Fernández-Pombo ◽  
Gemma Rodríguez-Carnero ◽  
Miguel Angel Martínez-Olmos ◽  
Ana Cantón ◽  
...  

Abstract Background: Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of the HIV-associated lipodystrophy, they have a very low prevalence, which together with their large phenotypic heterogeneity makes their identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis or even to misdiagnosis. Our group has developed an algorithm that identifies the more than 40 rare lipodystrophy subtypes described to date. This algorithm has been implemented in a free mobile application, LipoDDx®. Our aim was to establish the effectiveness of LipoDDx®.40 clinical records of patients with a diagnosis of certainty of most lipodystrophy subtypes were analyzed, including subjects without lipodystrophy. The medical records, blinded for diagnosis, were evaluated by 13 physicians, 1 biochemist and 1 dentist. Each evaluator first gave his/her results based on his/her own criteria. Then, a second diagnosis was given using LipoDDx®. The results were analysed based on a score table according to the complexity of each case and the prevalence of the disease.Results: LipoDDx® provides a user-friendly environment, based on usually dichotomous questions or choice of clinical signs from drop-down menus. The final result provided by this app for a particular case can be a low/high probability of suffering a particular lipodystrophy subtype. Without using LipoDDx® the success rate was 17 ± 20%, while with LipoDDx® the success rate was 79 ± 20% (p <0.01).Conclusions: LipoDDx® is a free app that enables the identification of subtypes of rare lipodystrophies, which in this small cohort has around 80% effectiveness, which will be of help to doctors who are not experts in this field. However, it will be necessary to analyze more cases in order to obtain a more accurate efficiency value.


2021 ◽  
Vol 8 (2) ◽  
pp. 15
Author(s):  
Kegan Romelle Jones

Trichuriasis is the clinical disease of animals infected with the parasite of the genus Trichuris. This review attempts to present information on Trichuris spp. infestation in neo-tropical rodents that are utilized for meat consumption by humans. Neo-tropical rodents utilized for meat production can be divided into two categories: those that have been domesticated, which include the guinea pig (Cavia porcellus), and those that are on the verge of domestication, such as the capybara (Hydrochoerus hydrochaeris), lappe (Cuniculus paca/Agouti paca), and agouti (Dasyprocta leporina). This document reviews the literature on the species of Trichuris that affects the rodents mentioned above, as well as the clinical signs observed. The literature obtained spans over sixty years, from 1951 to 2020. Trichuris spp. was found in these neo-tropical rodents mentioned. However, there is a dearth of information on the species of Trichuris that parasitize these animals. The capybara was the only rodent where some molecular techniques were used to identify a new species named T. cutillasae. In most cases, Trichuris spp. was found in combination with other endoparasites, and was found at a low prevalence in the lappe and guinea pig. The presence of Trichuris spp. ranged from 4.62–53.85% in the agouti, 4.21–10.00% in the lappe, 50% in the capybaras, and 1–31% in guinea pigs. Further work must be done towards molecular identification of various Trichuris spp. present in these rodents, as well as the clinical effect of infection on the performance of agouti, lappe, capybara, and guinea pigs.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1815.1-1815
Author(s):  
I. Martínez Cordellat ◽  
R. Gonzalez Mazario ◽  
M. De la Rubia Navarro ◽  
C. Pávez Perales ◽  
S. Leal Rodriguez ◽  
...  

Background:Rhupus syndrome (RhS) is a rare combination of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Different studies describe RhS cases that begin with erosive arthritis and the presence of rheumatoid factor (RF) and/or anti CCP and then the SLE symptoms.Objectives:Despite the fact that RhS shows a low prevalence, it would be useful to know clinical characteristics of RhS patients since their therapy and outcome differ from those having RA or SLE alone.Methods:Retrospective study with systematic revision of electronic clinical records of RhS patients was performed. Demographic, clinical and immunological data were collected.Results:Eight RhS patients were included (all fulfilled SLICC 2012 criteria for SLE and ACR 2010 for RA). Mean age was 67.3 (45-84) years (7 were female).In 3 cases RA was the first diagnosis with a mean evolution of 4.5 years until SLE diagnosis. In contrast, in 5 cases SLE was the first diagnosis with a mean evolution of 7.2 years until RA diagnosis. Photosensitivity and arthritis were the predominant clinical manifestations. One patient presents pericarditis and other case showed rheumatoid nodules in elbows. Renal, pulmonary or neurological affection was no reported.4 patients were under biological/JAK inhibitors therapies (2 abatacept, 1 rituximab and 1 baricitinib) with favorable response of treatment.Conclusion:In contrast to other series, only the 37.5% of our RhS cases begins with polyarticular seropositive arthritis. The 62.5% started with SLE symptoms as haematological alterations, cutaneous and serological manifestation, and showed longer progression to have polyarticular affection. Thus, RhS diagnosis is earlier in patients that begin with RA symptoms. 4 RhS patients were refractory to DMARd treatments, where biological/JAK inhibitors therapies are needed.Disclosure of Interests:None declared


Author(s):  
Stephanie L. Shaver ◽  
Daniel S. Foy ◽  
Todd D. Carter

Abstract OBJECTIVE To describe signalment, clinical signs, serologic test results, treatment, and outcome of dogs with Coccidioides osteomyelitis (COM) and to compare those findings with findings for dogs with osteosarcoma (OSA). ANIMALS 14 dogs with COM and 16 dogs with OSA. PROCEDURES Data were retrospectively gathered from electronic medical records. RESULTS Dogs with COM were younger and weighed less than dogs with OSA. Six dogs with COM had appendicular lesions, 5 had axial lesions, and 3 had both appendicular and axial lesions; 9 had monostotic disease, and 5 had polyostotic disease. Axial lesions and nonadjacent polyostotic disease were more common in dogs with COM than in dogs with OSA, but radiographic appearance was not different between the 2 groups. Median IgG titer at diagnosis of COM was 1:48 and was significantly decreased after 6 and 12 months of treatment. Percentage of dogs with COM that had clinical signs was significantly decreased after 1, 3, 6, and 12 months of treatment. One year after initiation of treatment, 9 of 9 dogs were still receiving fluconazole and 8 of 9 dogs had positive results for serum IgG titer testing. CLINICAL RELEVANCE Dogs with COM typically had a rapid improvement in clinical signs after initiating treatment with fluconazole but required long-term antifungal treatment. Dogs with COM differed from dogs with OSA, but radiographic features had a great degree of overlap between groups, confounding the ability to make a diagnosis on the basis of diagnostic imaging alone.


1994 ◽  
Vol 15 (4) ◽  
pp. 1-9 ◽  
Author(s):  
George H. Beaton ◽  
Reynaldo Martorell ◽  
Kristan A. Aronson ◽  
Barry Edmonston ◽  
George McCabe. A. Catharine Ross ◽  
...  

A meta-analysis of eight mortality trials indicates that improving the vitamin A status of children aged six months to five years reduced mortality rates by about 23% in populations with at least low prevalence of clinical signs of vitamin A deficiency. The observed effect of supplementation, described in terms of relative risk (RR), was RR =0.77 (95% confidence interval 0.68–0.88; p < .001) and did not differ by sex or age. However, the number of lives saved was greater at younger ages because of higher mortality. A significant RR was shown for deaths attributed to diarrhoea and measles, but not for respiratory infection. Variability among the trials in effects was apparent, but attempts to explain it by descriptors of the population (baseline anthropometric status, prevalence of xerophthalmia, age profile, baseline mortality) were unsuccessful. Owing to the lack of data, firm conclusions could not be reached about effectiveness in children of less than six months and in settings where biochemical but not clinical evidence of vitamin A deficiency exists. Information about morbidity outcomes from about two dozen studies was reviewed. No consistent effects on frequency or prevalence of diarrhoeal and respiratory infections were found. Improvement in vitamin A status did appear to reduce severe morbidity, particularly in children with measles.


2015 ◽  
Vol 55 (3) ◽  
pp. 126
Author(s):  
Yoke Ayukarningsih ◽  
Arief Dwinanda

Background The infant mortality rate (IMR) in Indonesia is higher than that in other ASEAN countries. The highest rate of mortality occurs in the first 24 hours of life. Suboptimal breastfeeding initiation is a cause of high IMR. In an effort to decrease infant mortality, implementing early initiation of breastfeeding (EIB) has been encouraged.Objective To assess the success rate and time needed for latching on in EIB implementation.Methods We reviewed medical records of vaginal deliveries at Dustira Hospital, Cimahi, West Java, from June–November 2011.Results From 305 vaginal deliveries, 174 infants received EIB, though only 159 medical records could be assessed. The results showed that 52 % did EIB with a 91.8% success rate (defined as good implementation by WHO) and a 8.2% fail rate. In terms of subjects’ birth weights, the success rate of EIB implementation was 62.5% in the low birth weight (LBW) group, 94.9% in the normal birth weight (NBW) group, and 100% in the large birth weight or macrosomic group. The success rate of EIB implementation was 69.2% in the preterm group and 93.8% in the full term group. The success rate of EIB implementation was 71.4% in the LBW/fullterm group and 55.6% in the LBW/preterm group. The amount of time for infants to latch on was highest within the 30–44 minute group (52.7%).Conclusion The EIB implementation at Dustira Hospital was classified as good and the amount of time to latch on was 30-44 minutes.


2012 ◽  
Vol 33 (3) ◽  
pp. 224-229 ◽  
Author(s):  
Sara E. Cosgrove ◽  
Polly Ristaino ◽  
Anne Caston-Gaa ◽  
Donna P. Fellerman ◽  
Elaine F. Nowakowski ◽  
...  

Objective.To describe a pseudo-outbreak associated with loose bronchoscope biopsy ports caused by inadequate bronchoscope repair practices by third-party vendors and to alert healthcare personnel to assess bronchoscope repair practices.Design.Outbreak investigation.Setting.A 925-bed tertiary care hospital in Baltimore, Maryland.Patients.Patients who underwent bronchoscopy with certain bronchoscopes after they had been repaired by a third-party vendor.Methods.An epidemiologic investigation was conducted to determine the cause ofPseudomonas putidagrowth in 4 bronchoalveolar lavage (BAL) specimens within a 3-day period in May 2008. All bronchoscopes were inspected, and cultures were obtained from bronchoscopes and the environment. Bronchoscope cleaning and maintenance practices were reviewed. Microbiologic results from BAL specimens and medical records were reviewed to find additional cases.Results.All 4 case patients had undergone bronchoscopy with one of 2 bronchoscopes, both of which had loose biopsy ports. Bronchoscope cultures grewP. putida, Pseudomonas aeruginosa,andStenotrophomonas.TheP. putidastrains from the bronchoscopes matched those from the patients. Specimens from 12 additional patients who underwent bronchoscopy with these bronchoscopes grewP. putida, P. aeruginosa,orStenotrophomonas.No patients developed clinical signs or symptoms of infection, but 7 were treated with antibiotics. Investigation revealed that the implicated bronchoscopes had been sent to an external vendor for repair; examination by the manufacturer revealed irregularities in repairs and nonstandard part replacements.Conclusions.Third-party vendors without access to proprietary information may contribute to mechanical malfunction of medical devices, which can lead to contamination and incomplete disinfection.Infect Control Hosp Epidemiol2012;33(3):224-229


Author(s):  
Nabeel Salih Ali ◽  
Zaid Abdi Alkaream Alyasseri ◽  
Abdulhussein Abdulmohson

Wireless Sensor Networks (WSNs) for healthcare have emerged in the recent years. Wireless technology has been developed and used widely for different medical fields. This technology provides healthcare services for patients, especially who suffer from chronic diseases. Services such as catering continuous medical monitoring and get rid of disturbance caused by the sensor of instruments. Sensors are connected to a patient by wires and become bed-bound that less from the mobility of the patient. In this paper, proposed a real-time heart pulse monitoring system via conducted an electronic circuit architecture to measure Heart Pulse (HP) for patients and display heart pulse measuring via smartphone and computer over the network in real-time settings. In HP measuring application standpoint, using sensor technology to observe heart pulse by bringing the fingerprint to the sensor via used Arduino microcontroller with Ethernet shield to connect heart pulse circuit to the internet and send results to the web server and receive it anywhere. The proposed system provided the usability by the user (user-friendly) not only by the specialist. Also, it offered speed andresults accuracy, the highest availability with the user on an ongoing basis, and few cost.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dae Hyun Kim ◽  
Ha Jeong Noh

Abstract Background Acute acquired comitant esotropia (AACE) is a type of strabismus characterized by a sudden onset of large angle esotropia with diplopia, which often occurs in children after infancy, teenagers, and young adolescents. However, studies on the surgical outcomes of only adults are rare. The purpose of this article is to analyze the surgical outcomes for adult patients diagnosed with AACE. Methods Medical records of 24 patients who had undergone surgery for AACE were retrospectively analyzed. The main outcome measures were the final motor and sensory success rate after surgery and factors affecting motor and sensory outcomes. Motor success was considered alignment within 8 prism diopter (PD) at both near and distance and sensory success was stereoacuity ≥ 60 sec/arc. Results The preoperative mean esodeviation angles were 33.1 ± 10.4 PD at distance and 33.3 ± 11.2 PD at near. The mean period of postoperative follow up was 7.5 ± 4.5 months (range 1–8 months). The postoperative mean esodeviation angles at final follow-up time were 3.4 ± 6.1 PD at distance and 3.8 ± 6.7 PD at near. The surgical motor success rate at final follow-up was 79.2% (19/24). The sensory success rate at final follow-up was 50.0% (12/24). The factor affecting the motor outcome was the type of surgery (p < 0.05). The factor affecting sensory outcome was postoperative follow-up time (p < 0.05). Conclusions Surgery type appears to affect surgical motor outcomes in adults with AACE. Although the sensory outcome was favorable, it seems that regaining bifoveal fixation takes time.


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