RESUMO
Alkaptonuria is a rare genetic metabolic disorder of autosomal recessive inheritance characterised by the accumulation of homogentisic acid in the body. It is diagnosed upon identification of characteristic symptoms, using various biochemical investigations, radiographic pictures, and a variety of specialised tests. Here we are discussing the case of an 80-year-old female patient with incidental findings of alkaptonuria. It is crucial to understand the fundamental diagnostic investigations that can be used in low-income nations or facilities where investigations like genetic testing, gas chromatography, and mass spectrometry are not readily available for the diagnosis of alkaptonuria.
RESUMO
Background and aim The diameter of the graft used for the reconstruction of the anterior cruciate ligament (ACL) is an important determinant for the overall strength and future outcome of the operative procedure. Preoperative prediction of quadrupled hamstrings autograft (QHAG) diameter can prove to be of help in forecasting the need for augmentation or alternative grafts like quadriceps, bone-patellar tendon-bone autograft, and synthetic grafts. The relationship between the preoperatively assessed anthropometric parameters and the obtained quadrupled hamstrings graft diameter has not been extensively studied, especially in the population of Indian origin. This study aimed at investigating whether a correlation exists between the measured anthropometric parameters like age, weight, height, thigh circumference, and body mass index (BMI) and the intraoperatively obtained diameter of hamstring graft for ACL reconstruction in the study population of Indian male subjects. Study design A prospective cohort study conducted in a tertiary care center and teaching hospital in a district in central Uttar Pradesh, India. Methods The preoperative anthropometric data (age, height, weight, BMI, and thigh circumference of the injured side) of 73 Indian male subjects undergoing primary ACL reconstructive surgeries between May 2018 and August 2020 were prospectively collected, and their respective intraoperative QHAG diameters measured and recorded. Pearson's correlation test was employed to determine the correlation between the preoperative demographic and anthropometric data and the obtained corresponding graft diameters. Simple linear regression was performed to obtain the graphical plots and determine the relationship between the dependent and independent variables. Of these, the variables showing significant association were subjected to stepwise linear regression to identify and exclude the confounder(s) and obtain the predicted equation. Results The study comprised 73 male participants. The study participants' mean age was found to be 33.7 years, mean height was 173.1 cm, mean weight was 71.2 kg, mean BMI was 23.7 kg/m2, mean thigh circumference was 50.4 cm, and the obtained mean graft diameter was 8.0 mm. A strongly positive correlation was observed between height and the graft diameter (r=0.940, P=0.000) and thigh circumference and the graft diameter (r=0.769, P=0.000). In contrast, weight showed a moderately positive correlation with the graft diameter (r=0.514, P=0.000). A very weakly positive correlation was observed between the BMI of the subjects and the obtained graft diameters (r=0.236, P=0.045). However, no correlation was observed between the age and the final graft diameters (r=0.140, P=0.238). Subsequent linear regression analysis indicates that only height (R2=0.883, P=0.000; strong) and the thigh circumference (R2=0.591, P=0.000; moderate) share a significant predictive value for the obtained QHAG. Both height and thigh circumference together were good predictors for graft diameter as determined by multiple regression (F (2,70)=272.372, P<0.001), with an R2 of 0.886. Conclusion Certain anthropometric parameters depict a positive correlation with the QHAG diameter and can assist in preoperative planning, predicting the possible harvested graft diameter and the need for alternative grafts or augmentation during ACL reconstructive surgeries.
